Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

被引：75

作者：

Leonard, H

Colvin, L

Christodoulou, J

Schiavello, T

Williamson, S

Davis, M

Ravine, D

Fyfe, S

de Klerk, N

Matsuishi, T

Kondo, I

Clarke, A

Hackwell, S

Yamashita, Y

机构：

[1] Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA 6872, Australia

[2] Univ Sydney, Sch Paediat & Child Hlth, Sydney, NSW 2006, Australia

[3] Childrens Hosp, Western Sydney Genet Program, Westmead, NSW, Australia

[4] Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Perth, WA 6009, Australia

[5] Univ Wales Coll Med, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales

[6] Curtin Univ Technol, Perth, WA 6001, Australia

[7] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 830, Japan

[8] Ehime Univ, Sch Med, Dept Hyg, Matsuyama, Ehime 790, Japan

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 05期

关键词：

D O I：

10.1136/jmg.40.5.e52

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：7

共 50 条

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