Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

被引:58
|
作者
Maichele, AJ
Burwinkel, B
Maire, I
Sovik, O
Kilimann, MW
机构
[1] RUHR UNIV BOCHUM, INST PHYSIOL CHEM, D-44780 BOCHUM, GERMANY
[2] HOP DEBROUSSE, CTR ETUDE MALAD METAB, F-69322 LYON 5, FRANCE
[3] UNIV BERGEN, HAUKELAND HOSP, DEPT PEDIAT, N-5016 BERGEN, NORWAY
关键词
D O I
10.1038/ng1196-337
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:337 / 340
页数:4
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