Computational prediction of cryptic splicing mutations in the COL7A1 gene in dystrophic epidermolysis bullosa: Implications for genotype-phenotype correlation

被引：0
|
作者：
Wessagowit, V
Kim, SC
Oh, SW
Mcgrath, JA
机构：
[1] St Thomas Hosp, GKT Med Sch, St Johns Inst Dermatol, London, England
[2] Yonsei Univ, Coll Med, Res Inst, Dept Dermatol & Cutaneous Biol, Seoul, South Korea
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2005年 / 152卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：844 / 845
页数：2
相关论文
共 50 条
  • [31] Identification of a novel COL7A1 variant in dystrophic epidermolysis bullosa
    Sheriff, Tabrez
    Murrell, Dedee F.
    AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2022, 63 : 32 - 32
  • [32] Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa
    Mellerio, JE
    Dunnill, MGS
    Allison, W
    Ashton, GHS
    Christiano, AM
    Uitto, J
    Eady, RAJ
    McGrath, JA
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (02) : 246 - 249
  • [33] Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa
    Yan, Yousheng
    Meng, Zhaoyan
    Hao, Shengju
    Wang, Fang
    Jin, Xiaohua
    Sun, Daguang
    Gao, Huafang
    Ma, Xu
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2018, 48 (01): : 100 - 105
  • [34] Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency
    Horev, L
    Waran Lalin, T
    Martinez-Mir, A
    Bagheri, BA
    Tadin-Strapps, M
    Schneiderman, PI
    Grossman, ME
    Bickers, DR
    Christiano, AM
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2003, 28 (01) : 80 - 84
  • [35] Type VII collagen gene (COL7A1) mutations in nine families with dystrophic epidermolysis bullosa (DEB)
    Kon, A
    Pulkkinen, L
    Ishida-Yamamoto, A
    Hashimoto, I
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (04) : 616 - 616
  • [36] Recurrent and de novo dominant COL7A1 mutations in dystrophic forms of epidermolysis bullosa
    Cash, S
    Sadowski, S
    Uitto, J
    Pfendner, EG
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (03) : A86 - A86
  • [37] Clinicopathological correlations of compound heterozygous COL7A1 mutations recessive dystrophic epidermolysis bullosa
    Dunnill, MGS
    McGrath, JA
    Richards, AJ
    Christiano, AM
    Uitto, J
    Pope, FM
    Eady, RAJ
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (02) : 171 - 177
  • [38] Two cases of late-onset dystrophic epidermolysis bullosa COL7A1 mutations
    O'Higgins, Lisa
    Hynes, Jason
    Grechin, Cristina
    Hudson, Andrew
    Roche, Muireann
    O'Kane, Marina
    BRITISH JOURNAL OF DERMATOLOGY, 2024, 191 : I12 - I12
  • [39] A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene
    Shimizu, Yuri
    Kotobuki, Yorihisa
    Arase, Noriko
    Arase, Hisashi
    Katayama, Ichiro
    Fujimoto, Manabu
    ANNALS OF DERMATOLOGY, 2022, 34 (01) : 81 - 83
  • [40] Detection of COL7A1 mutations causing dystrophic epidermolysis bullosa by denaturing-HPLC
    Castiglia, D
    Posteraro, P
    Pascucci, M
    Fusari, R
    Colombi, M
    Barlati, S
    Zambruno, G
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (03) : A25 - A25
12345