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：59

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

来源：

NATURE GENETICS | 1996年 / 14卷 / 03期

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

页码：337 / 340

页数：4

共 38 条

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