Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa

被引：2
|
作者：
Drera, B. [2 ]
Floriddia, G. [1 ]
Forzano, F. [3 ]
Barlati, S. [2 ]
Zambruno, G. [1 ]
Colombi, M. [2 ]
Castiglia, D. [1 ]
机构：
[1] Ist Dermopat Immacolata, IRCCS, Lab Mol & Cell Biol, I-00167 Rome, Italy
[2] Univ Brescia, Dept Biomed Sci & Biotechnol, Div Biol & Genet, I-25123 Brescia, Italy
[3] EO Osped Galliera, Genet Lab, I-16128 Genoa, Italy
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2009年 / 161卷 / 02期
关键词：
branch point site; COL7A1; recessive dystrophic epidermolysis bullosa; splicing mutation; VII COLLAGEN GENE; MECHANISMS;
D O I：
10.1111/j.1365-2133.2009.09114.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：464 / 467
页数：4
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