2010 Fiscal Year Final Research Report
Splice site mutation of MAMLD1 in disorders of sex development patients
| Project/Area Number |
21790899
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Endocrinology
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
WADA Yuka 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員 (80399485)
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| Project Period (FY) |
2009 – 2010
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| Keywords | 分子遺伝学 / 尿道下裂 / スプライシング |
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| Research Abstract |
We performed mutation screening for CXorf6 in hypospadias patients and identified a novel splice site mutation, IVS4-2A>G. we indicate that the mutation is a novel causative gene for hypospadias and is involved in MAMLD1.
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Research Products
(5 results)
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[Journal Article] Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with Campomelic dysplasia or Acampomelic dysplasia2009
Author(s)
Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T.
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Journal Title
Am J Med Genet. 149A(12)
Pages: 2882-2885
Peer Reviewed
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