Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

被引：6
|
作者：
Simsek, M [1 ]
Al-Gazali, L
Al-Mjeni, R
Bayoumi, R
机构：
[1] Sultan Qaboos Univ, Coll Med, Dept Biochem, Muscat, Oman
[2] Sultan Qaboos Univ, Genet Unit, Coll Med, Muscat, Oman
[3] United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates
来源：
CLINICAL BIOCHEMISTRY | 2003年 / 36卷 / 02期
关键词：
D O I：
10.1016/S0009-9120(02)00441-1
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：151 / 153
页数：3
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