A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

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Bibliographic Details
Published in:Human mutation 2000-07, Vol.16 (1), p.94-94
Main Authors: Lam, Ching-Wan, Chan, Kwok-Yin, Tong, Sui-Fan, Chan, Bik-Yan, Chan, Yuk-Tat, Chan, Yan-Wo
Format: Article
Language:English
Subjects:
Amino Acid Substitution - genetics
Antiporters
G6PT1
glucose-6-phosphate translocase
glycogen storage disease 1b
Glycogen Storage Disease Type I - enzymology
Glycogen Storage Disease Type I - genetics
Hong Kong
Humans
Leucine - genetics
Monosaccharide Transport Proteins
Mutation, Missense - genetics
Phosphotransferases - genetics
Proline - genetics
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ISSN:1059-7794
1098-1004
DOI:10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q