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New point mutation (R301X) of the α‐galactosidase a gene causing fabry disease
Author(s) -
Kawanishi Chiaki,
Osaka Hitoshi,
Inoue Ken,
Onishi Hideki,
Yamada Yoshiteru,
Sugiyama Naoya,
Suzuki Kyoko,
Hanihara Tokiji,
Miyagawa Tomohiro,
Kimura Seiji,
Kawamoto Susumu,
Okuda Kenji,
Kosaka Kenji
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.1380060214
Subject(s) - biology , fabry disease , point mutation , mutation , genetics , gene , alpha galactosidase , disease , medicine