Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutations

被引：9

作者：

Coman, D

Klingberg, S

Morris, D

McGill, J

Mercer, H

机构：

[1] Royal Childrens Hosp, Dept Metab Med, Brisbane, Qld, Australia

[2] Royal Brisbane Hosp, Dept Chem Pathol, Brisbane, Qld 4029, Australia

[3] Rockhampton Base Hosp, Dept Paediat, Rockhampton, Qld, Australia

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷 / 06期

关键词：

D O I：

10.1007/s10545-005-0166-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.

引用

页码：1189 / 1190

页数：2

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