Carrier screening for Canavan disease in Australia

被引：3

作者：

Howell, VM

Proos, AL ^{[1
]}

LaRue, D

Jensen, CH

Beach, F

Burnett, L

机构：

[1] Royal N Shore Hosp, PaLMS, St Leonards, NSW 2065, Australia

[2] Royal N Shore Hosp, Kolling Inst Med Res, St Leonards, NSW 2065, Australia

[3] Univ Sydney, Sydney, NSW 2006, Australia

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2004年 / 27卷 / 02期

关键词：

D O I：

10.1023/B:BOLI.0000028837.63607.f0

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene.

引用

页码：289 / 290

页数：2