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2013 Fiscal Year Annual Research Report

染色体構造異常の次世代シーケンス解析

Research Project

Project/Area Number 24249019
Research InstitutionYokohama City University

Principal Investigator

松本 直通  横浜市立大学, 医学(系)研究科(研究院), 教授 (80325638)

Project Period (FY) 2012-04-01 – 2015-03-31
Keywords染色体構造異常 / 次世代シーケンス / CNV / 情報解析
Research Abstract

次世代シーケンサー(NGS)を用いて染色体(ゲノム)微細構造異常を網羅的に解析することを目的とし研究を進めた。これまでの高密度マイクロアレー研究等で明らかになった微細構造異常例を用いてNGS解析を行い、アレーとNGSのデータの比較検討から構造異常を同定する最適な情報解析プロトコルを確立することを目指した。平成25年度は染色体相互転座を含む9症例について読み取り深度の浅い全ゲノム解析(全ゲノムカバー率10-20x程度)を行い構造異常切断点解析を進めた。解析プロトコルにはPCR増幅を用いずIllumina Hiseq2000を用いてペアエンドシーケンスを行った。データ解析プロトコルは、当初Novoalignを用いてマッピングを行ったが、マッピングの時間に長時間要し効率が悪いためBWAを用いることにした。転座点解析にはBreakDancerを用いた。既に塩基レベルで切断点解析異常を決定していた7症例のうち6症例で切断点同定が可能で、2例で未同定であった構造異常切断点もマッピングされ塩基レベルで切断点を決定することが可能であった。CNV解析では全エクソームシーケンスのデータを用いてXHMM解析を行い、マイクロアレーで同定された100 Kb以上のCNVについておよそ60%の同定が可能であった。また通常のマイクロアレー解析では不可能であった10 Kb程度のCNV解析も同定できる可能性がある。

Current Status of Research Progress
Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

次世代シーケンサー(NGS)を用いて染色体(ゲノム)微細構造異常を網羅的に解析することを目的とし、これまでの高密度マイクロアレー研究で明らかになった微細構造異常例を用いてNGS解析を行い、アレーとNGSのデータの比較検討から構造異常を同定する最適な情報解析プロトコルを確立することを目指した。均衡型転座を含む染色体構造異常の構造異常切断点解析では9例のうち1例を除きすべて切断点解析が可能であった。BreakDancerおよびIGVを用いて正確な切断点解析が可能であることが明らかとなった。CNV解析ではXHMM解析で100 Kb以上のCNVのおよそ60%の検出が可能であることが判明し、完全ではないものの補助的スクリーニングとしては十分機能することがわかってきた。全エクソーム解析と読み取り深度の低い全ゲノム解析を組み合わせて疾患にかかわるゲノム構造異常のスクリーニングが十分可能であるという感触を得ている。

Strategy for Future Research Activity

均衡型転座を復も染色体構造異常解析は読み取り深度の低い全ゲノム解析で正確に転座切断点が同定可能なプロトコールをほぼ確立できた。全エクソーム解析データを用いたCNV解析においては、XHMMを用いて100 Kb以上のCNVをおよそ60%は特定できることが明らかになったが、完全ではない。今後は、CNV解析の正確性の向上を目指し、さらに良い解析プロトコールの検討を行っていく。また通常のマイクロアレー解析では同定の難しい10 Kb以下のCNVについてはむしろ全エクソーム解析データで特定できる可能性もあり、さらに詳細な検討を加えていく予定である。

  • Research Products

    (47 results)

All 2014 2013 Other

All Journal Article (33 results) (of which Peer Reviewed: 33 results) Presentation (10 results) (of which Invited: 8 results) Patent(Industrial Property Rights) (4 results)

  • [Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes.2014

    • Author(s)
      *Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
    • Journal Title

      Clin Genet

      Volume: 85(4) Pages: 396-8

    • DOI

      10.1111/cge.12188.

    • Peer Reviewed
  • [Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.2014

    • Author(s)
      Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 164 Pages: 231-236

    • DOI

      10.1002/ajmg.a.36228.

    • Peer Reviewed
  • [Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.2014

    • Author(s)
      *Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich JA.
    • Journal Title

      Brain Dev

      Volume: 36 Pages: 259-263

    • DOI

      10.1016/j.braindev.2013.03.006

    • Peer Reviewed
  • [Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.2014

    • Author(s)
      Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
    • Journal Title

      Brain Dev

      Volume: 36 Pages: 272-273

    • DOI

      10.1016/j.braindev.2013.03.007

    • Peer Reviewed
  • [Journal Article] Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?2014

    • Author(s)
      Kutuk MS, Balta B, Kodera H, Matsumoto N, Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M.
    • Journal Title

      Childs Nerv Syst

      Volume: 30 Pages: 419-424

    • DOI

      10.1007/s00381-013-2338-7.

    • Peer Reviewed
  • [Journal Article] A hemizygous GYG2 mutation causes Leigh syndrome.2014

    • Author(s)
      Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E・Hideo Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
    • Journal Title

      Hum Genet

      Volume: 133 Pages: 225-234

    • DOI

      10.1007/s00439-013-1372-6

    • Peer Reviewed
  • [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.2013

    • Author(s)
      *Miyake N#, Yano S# (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N (*: corresponding).
    • Journal Title

      Hum Mut

      Volume: 34 Pages: 446-452

    • DOI

      10.1002/humu.22257

    • Peer Reviewed
  • [Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.2013

    • Author(s)
      *Saitsu H#, Nishimura T#, Muramatsu K# (# denotes equal contribution), Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, *Mizushima, *Matsumoto N (*: co-corresponding).
    • Journal Title

      Nat Genet

      Volume: 45 Pages: 445-449

    • DOI

      10.1038/ng.2562

    • Peer Reviewed
  • [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in the monocyte differentiation program.2013

    • Author(s)
      Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Sato H, Nakabayashi J, Ban T, Miyake N, Matsumoto N, Nakazawa M, Ozato K, *Tamura T.
    • Journal Title

      Blood

      Volume: 121 Pages: 1839-1849

    • DOI

      10.1182/blood-2012-06-437863

    • Peer Reviewed
  • [Journal Article] Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.2013

    • Author(s)
      Nakajima M,# Mizumoto S,# Miyake N,# (# denotes equal contribution) et al., Matsumoto N, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 92 Pages: 927-934

    • DOI

      10.1038/ng.2562

    • Peer Reviewed
  • [Journal Article] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.2013

    • Author(s)
      Nishiguchi KM, Tearle RG, Liu Y, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma T, Beckmann JS, Ikegawa I, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
    • Journal Title

      Proc Natl Acad Sci USA

      Volume: 110 Pages: 16139-16144

    • DOI

      10.1073/pnas.1308243110

    • Peer Reviewed
  • [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.2013

    • Author(s)
      Ravenscroft G#, Miyatake S# (# denotes the first authors with equal contribution), et al., *Matsumoto N§, *Laing NG§ (§ denotes equal contribution as the last author)
    • Journal Title

      Am J Hum Genet

      Volume: 93 Pages: 6-18

    • DOI

      10.1016/j.ajhg.2013.05.004.

    • Peer Reviewed
  • [Journal Article] MLL2 and KDM6A mutations and their clinical consequences in Kabuki syndrome.2013

    • Author(s)
      *Miyake N, et al., *Matsumoto N, Niikawa N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 2234-2243

    • DOI

      10.1002/ajmg.a.36072

    • Peer Reviewed
  • [Journal Article] De novo mutations in GNAO1 encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.2013

    • Author(s)
      #Nakamura K, #Kodera H, #Akita T (# denotes equal contribution), et al., *Matsumoto N, *Saitsu H (* denotes co-correspondence)
    • Journal Title

      Am J Hum Genet

      Volume: 93 Pages: 496-505

    • DOI

      10.1016/j.ajhg.2013.07.014

    • Peer Reviewed
  • [Journal Article] Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy.2013

    • Author(s)
      Gupta VA, et al., Matsumoto N, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 93 Pages: 1108-1117

    • DOI

      10.1016/j.ajhg.2013.10.020

    • Peer Reviewed
  • [Journal Article] A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.2013

    • Author(s)
      Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161A Pages: 1073-1077

    • DOI

      10.1002/ajmg.a.35661.

    • Peer Reviewed
  • [Journal Article] A novel homozygous SCARB2 mutation causes late-onset progressive myoclonus epilepsy without renal failure.2013

    • Author(s)
      Higashiyama Y, *Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
    • Journal Title

      Mov disord

      Volume: 28 Pages: 552-553

    • DOI

      10.1002/mds.25296.

    • Peer Reviewed
  • [Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like.2013

    • Author(s)
      Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161A Pages: 1543-1546

    • DOI

      10.1002/ajmg.a.35983.

    • Peer Reviewed
  • [Journal Article] Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing.2013

    • Author(s)
      Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N.p
    • Journal Title

      Mol Vis

      Volume: 19 Pages: 384-389

    • Peer Reviewed
  • [Journal Article] A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.2013

    • Author(s)
      Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 2291-2293

    • DOI

      10.1002/ajmg.a.35861.

    • Peer Reviewed
  • [Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.2013

    • Author(s)
      Nakamura K, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
    • Journal Title

      Neurology

      Volume: 81 Pages: 992-998

    • DOI

      10.1212/WNL.0b013e3182a43e57

    • Peer Reviewed
  • [Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.2013

    • Author(s)
      Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
    • Journal Title

      Plos One

      Volume: 8 Pages: e74167

    • DOI

      10.1371/journal.pone.0074167

    • Peer Reviewed
  • [Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome.2013

    • Author(s)
      Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 2576-2581

    • DOI

      10.1002/ajmg.a.36083.

    • Peer Reviewed
  • [Journal Article] Clinical consequences of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.2013

    • Author(s)
      *Kosho T, et al., *Matsumoto N (*: co-corresponding).
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 1221-1237

    • DOI

      10.1002/ajmg.a.35933

    • Peer Reviewed
  • [Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.2013

    • Author(s)
      Iida A, Nobuhiko Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N,* Ikegawa S.
    • Journal Title

      J Hum Genet

      Volume: 58 Pages: 391-394

    • DOI

      10.1038/jhg.2013.25.

    • Peer Reviewed
  • [Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013

    • Author(s)
      Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
    • Journal Title

      Epilepsia

      Volume: 54 Pages: 1262-1269

    • DOI

      10.1111/epi.12203

    • Peer Reviewed
  • [Journal Article] Y-Chromosome-linked B- and NK-cell deficiency in mice.2013

    • Author(s)
      Sun S-L, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Ryo Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N*.
    • Journal Title

      J Immunol

      Volume: 190 Pages: 6209-6220

    • DOI

      10.4049/jimmunol.1300303.

    • Peer Reviewed
  • [Journal Article] Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation.2013

    • Author(s)
      *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
    • Journal Title

      Intern Med

      Volume: 52 Pages: 1629-1633

    • Peer Reviewed
  • [Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter.2013

    • Author(s)
      Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 1904-1909

    • DOI

      10.1002/ajmg.a.36026.

    • Peer Reviewed
  • [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.2013

    • Author(s)
      Kodera H#, Nakamura K# (# denotes equal contribution), Osaka H, Maegaki Y,Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Mitsuko Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, *Matsumoto N, *Saitsu H (*: co-corresponding).
    • Journal Title

      Hum Mut

      Volume: 34 Pages: 1708-1714

    • DOI

      10.1002/humu.22446.

    • Peer Reviewed
  • [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013

    • Author(s)
      Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
    • Journal Title

      Neurogenet

      Volume: 14 Pages: 225-232

    • DOI

      10.1007/s10048-013-0375-8.

    • Peer Reviewed
  • [Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome.2013

    • Author(s)
      Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
    • Journal Title

      J Hum Genet

      Volume: 58 Pages: 822-824

    • DOI

      10.1038/jhg.2013.104.

    • Peer Reviewed
  • [Journal Article] Clinical spectrum of early-onset epileptic encephalopathies caused by KCNQ2 mutations.2013

    • Author(s)
      *Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weise S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kadera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, *Saitsu H.
    • Journal Title

      Epilepsia

      Volume: 54 Pages: 1282-1287

    • DOI

      10.1111/epi.12200

    • Peer Reviewed
  • [Presentation] Mendelian Exome Analysis

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      The 10th International Workshop on Advanced Genomics
    • Place of Presentation
      National Center of Sciences, Tokyo
    • Invited
  • [Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood

    • Author(s)
      N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
    • Organizer
      European Conference of Human Genetic 2013
    • Place of Presentation
      Palais des Congrès, Paris, France
  • [Presentation] 次世代シーケンサーを用いてわかってきたこと

    • Author(s)
      松本直通
    • Organizer
      第17回小児分子内分泌研究会
    • Place of Presentation
      札幌北広島クラッセホテル・北海道
    • Invited
  • [Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性

    • Author(s)
      松本直通
    • Organizer
      第20回日本遺伝子診療学会大会
    • Place of Presentation
      アクトシティ―浜松コングレスセンター・静岡県浜松市
    • Invited
  • [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析

    • Author(s)
      松本直通
    • Organizer
      CiRA genomics epigenomics and bioinformatics seminar series VIII
    • Place of Presentation
      CiRA京都大学・京都府京都市
    • Invited
  • [Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト

    • Author(s)
      松本直通
    • Organizer
      現場の会第三回研究会
    • Place of Presentation
      神戸国際会議場・兵庫県神戸市
    • Invited
  • [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析:現状と限界

    • Author(s)
      松本直通
    • Organizer
      第22回発達腎研究会
    • Place of Presentation
      高槻市生涯学習センター・大阪府高槻市
    • Invited
  • [Presentation] 次世代シーケンス解析で分かってきたこと

    • Author(s)
      松本直通
    • Organizer
      第18回山形小児神経研究会
    • Place of Presentation
      パレスグランデール・山形県山形市
    • Invited
  • [Presentation] ヒト疾患エクソーム解析の現状と課題

    • Author(s)
      松本直通
    • Organizer
      第58回日本人類遺伝学会大会
    • Place of Presentation
      江陽グランドホテル仙台・宮城県仙台市
  • [Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-

    • Author(s)
      松本直通
    • Organizer
      日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
    • Place of Presentation
      秋葉原コンベンションホ―ル・東京都
    • Invited
  • [Patent(Industrial Property Rights)] ミトコンドリア複合体III欠乏症患者又は保因者の検出方法2014

    • Inventor(s)
      松本直通/三宅紀子
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      PCT/JP2013/71620
    • Filing Date
      2014-02-07
  • [Patent(Industrial Property Rights)] Coffin-Siris症候群の新規遺伝子診断法2013

    • Inventor(s)
      鶴崎美徳/松本直通
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      特願2013-252720
    • Filing Date
      2013-12-06
  • [Patent(Industrial Property Rights)] ケトン血症を伴うリー脳症患者または保因者の検出法2013

    • Inventor(s)
      松本直通/三宅紀子
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      特願2013-157339
    • Filing Date
      2013-07-31
  • [Patent(Industrial Property Rights)] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法2013

    • Inventor(s)
      才津浩智/松本直通
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      特願2013-123660
    • Filing Date
      2013-06-12

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Published: 2015-05-28  

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