2012 Fiscal Year Final Research Report
New insight into genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa
| Project/Area Number |
23890006
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | Hokkaido University |
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Principal Investigator |
SHINKUMA Satoru 北海道大学, 大学院・医学研究科, 助教 (00613788)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 表皮水疱症 / 遺伝子変異検索 / 免疫組織学的検査 / 電子顕微鏡学的検査 |
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| Research Abstract |
Because most cases of recessive dystrophic epidermolysis bullosa are caused by compound heterozygous COL7A1 mutations, it is usually difficult to assess the clinical phenotype and function of each mutant type VII collagen derived from different mutations. To clarify this question, genotype-phenotype correlation was analyzed in patients specifically having common COL7A1 mutations on one allele, which is known to lead to complete loss of type VII collagen expression through a premature termination codon.
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Research Products
(5 results)
