Mutation analysis in glycogen storage disease type 1 non-a

被引：17

作者：

Janecke, AR

Lindner, M

Erdel, M

Mayatepek, E

Möslinger, D

Podskarbi, T

Fresser, F

Stöckler-Ipsiroglu, S

Hoffmann, GF

Utermann, G

机构：

[1] Univ Innsbruck, Inst Med Biol & Human Genet, A-6020 Innsbruck, Austria

[2] Univ Heidelberg, Childrens Hosp, Div Metab & Endocrine Dis, D-6900 Heidelberg, Germany

[3] Univ Vienna, Childrens Hosp, Vienna, Austria

[4] Lab Stoffwechselgenet, Munich, Germany

来源：

HUMAN GENETICS | 2000年 / 107卷 / 03期

关键词：

D O I：

10.1007/s004390000371

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report molecular and clinical findings in 13 patients with rare types of glycogen storage disease 1 (GSD1 non-a). Analysis of G6PT encoding a microsomal transporter protein has revealed mutations on both chromosomes in each case, four of which are novel. Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients.

引用

页码：285 / 289

页数：5

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