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J-GLOBAL ID:202002277982931736   Reference number:20A1334206

Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

遺伝性出血性毛細血管拡張症(Osler-Weber-Rendu病)の日本人患者における新規ACVRL1遺伝子変異(c.100T>A,p.Cys34Ser)の同定
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Material:
Volume: 74  Issue:Page: 165-169  Publication year: Apr. 2020 
JST Material Number: Z0723A  ISSN: 0386-300X  Document type: Article
Article type: 原著論文  Country of issue: Japan (JPN)  Language: ENGLISH (EN)
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Congenital diseases,deformities in general. 

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