Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

被引：45

作者：

Shen, JJ

Brown, CA

Lupski, JR

Potocki, L

机构：

[1] Texas Childrens Hosp, Baylor Coll Med, Clin Care Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Univ Minnesota, Fairview Univ Med Ctr, Mol Diagnost Lab, Minneapolis, MN USA

[3] Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 11期

关键词：

D O I：

10.1136/jmg.40.11.854

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：854 / 857

页数：4

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