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Identification of a novel missense mutation (T16A) in the glucose‐6‐phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)
Author(s) -
Wu MeiChen,
Tsai FuuJen,
Le ChengChun,
Lin ShuanPei,
Wu JerYuarn
Publication year - 2000
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/(sici)1098-1004(200004)15:4<390::aid-humu32>3.0.co;2-n
Subject(s) - china , medicine , medical genetics , missense mutation , family medicine , pediatrics , biology , mutation , genetics , gene , history , archaeology