Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

被引：39

作者：

Schollen, E

Frank, CG

Keldermans, L

Reyntjens, R

Grubenmann, CE

Clayton, PT

Winchester, BG

Smeitink, J

Wevers, RA

Aebi, M

Hennet, T

Matthijs, G

机构：

[1] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Swiss Fed Inst Technol, Inst Microbiol, Zurich, Switzerland

[3] Univ Zurich, Inst Physiol, Zurich, Switzerland

[4] Great Ormond St Hosp Sick Children, London WC1N 3JH, England

[5] UCL, Inst Child Hlth, London, England

[6] Univ Med Ctr Nijmegen, Dept Paediat, Nijmegen, Netherlands

[7] Univ Med Ctr Nijmegen, Lab Paediat & Neurol, Nijmegen, Netherlands

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 07期

关键词：

D O I：

10.1136/jmg.2003.016923

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：550 / 556

页数：7

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