Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype

被引：15

作者：

Drera, B. ^{[1
]}

Tadini, G. ^{[2
]}

Barlati, S. ^{[1
]}

Colombi, M. ^{[1
]}

机构：

[1] Univ Brescia, Dept Biomed Sci & Biotechnol, Div Biol & Genet, I-25123 Brescia, Italy

[2] Fdn Osped Maggiore, Policlin Mangiagalli, Inst Dermatol Sci, Milan, Italy

来源：

CLINICAL GENETICS | 2008年 / 73卷 / 03期

关键词：

D O I：

10.1111/j.1399-0004.2007.00942.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：290 / 293

页数：4

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