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Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease
Author(s) -
Takahashi Tsutomu,
Desnick Robert J.,
Takada Goro,
Schuchman Edward H.
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010111
Subject(s) - missense mutation , medical genetics , medical school , medicine , genetics , mutation , biology , gene , medical education