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Novel missense mutation (M72V) of α‐galactosidase gene and its expression product in an atypical fabry hemizygote
Author(s) -
Okumiya Toshika,
Kawamura Osamu,
Itoh Kohji,
Kase Ryoichi,
Ishii Satoshi,
Kamei Sachiko,
Sakuraba Hitoshi
Publication year - 1998
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.1380110169
Subject(s) - metropolitan area , medical genetics , missense mutation , medicine , family medicine , library science , genetics , biology , mutation , pathology , gene , computer science