Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease

 

作者: Tsutomu Takahashi,   Robert J. Desnick,   Goro Takada,   Edward H. Schuchman,  

 

期刊: Human Mutation  （WILEY Available online 1992）
卷期: Volume 1, issue 1  

页码: 70-71

 

ISSN:1059-7794

 

年代: 1992

 

DOI:10.1002/humu.1380010111

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

数据来源: WILEY

 

 

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