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Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
Author(s) -
Huie Maryann L.,
Hirschhorn Rochelle,
Chen Agnes S.,
Martiniuk Frank,
Zhong Nan
Publication year - 1994
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.1380040410
Subject(s) - medical genetics , gerontology , library science , medicine , biology , genetics , computer science , gene
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