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Two new mutations in the acid sphingomyelinase gene causing type a Niemann–Pick disease: N389T and R441X
Author(s) -
Schuchman Edward H.
Publication year - 1995
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.1380060412
Subject(s) - genetics , acid sphingomyelinase , population , citation , human disease , biology , gene , library science , sphingomyelin , sociology , demography , computer science , membrane