A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I

被引：4
作者：
Farooq, Muhammad [1 ]
Fujikawa, Hiroki [1 ,2 ]
Fujimoto, Atsushi [1 ,2 ]
Kubo, Yoshiaki [3 ]
Ito, Masaaki [2 ]
Shimomura, Yutaka [1 ]
机构：
[1] Niigata Univ, Grad Sch Med & Dent Sci, Lab Genet Skin Dis, Niigata 9518510, Japan
[2] Niigata Univ, Grad Sch Med & Dent Sci, Div Dermatol, Niigata 9518510, Japan
[3] Univ Tokushima, Dept Dermatol, Grad Sch, Inst Hlth Biosci, Tokushima 770, Japan
来源：
INTERNATIONAL JOURNAL OF DERMATOLOGY | 2014年 / 53卷 / 08期
关键词：
D O I：
10.1111/j.1365-4632.2012.05694.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
[No abstract available]
引用
收藏
页码：1012 / 1015
页数：4
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