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

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作者信息

Takahashi T, Desnick R J, Takada G, Schuchman E H

机构信息

Mount Sinai School of Medicine, New York, New York 10029.

出版信息

Hum Mutat. 1992;1(1):70-1. doi: 10.1002/humu.1380010111.

DOI:10.1002/humu.1380010111

PMID:1301192

Abstract

摘要

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