A glycine substitution mutation in the type VII collagen gene causes mild recessive dystrophic epidermolysis bullosa in a large consanguineous pakistani family

被引:0
|
作者
Kraemer, L. [1 ]
Wajid, M. [1 ]
Christiano, A. M. [1 ]
机构
[1] Columbia Univ, New York, NY 10027 USA
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
198
引用
收藏
页码:33 / 33
页数:1
相关论文
共 50 条
  • [1] Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
    CserhalmiFriedman, PB
    Karpati, S
    Horvath, A
    Christiano, AM
    ARCHIVES OF DERMATOLOGICAL RESEARCH, 1997, 289 (11) : 640 - 645
  • [2] Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
    Peter B. Cserhalmi-Friedman
    Sarolta Karpati
    Attila Horvath
    A. M. Christiano
    Archives of Dermatological Research, 1997, 289 : 640 - 645
  • [3] Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa
    Cserhalmi-Friedman, PB
    Grossman, J
    Karpati, S
    Ahmad, W
    Horvath, A
    Christiano, AM
    EXPERIMENTAL DERMATOLOGY, 1999, 8 (02) : 143 - 145
  • [4] Distinguishing between dominant and recessive glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa
    Almaani, N.
    Liu, L.
    Dopping-Hepenstal, P. D. C.
    McGrath, J. A.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 : 32 - 32
  • [5] Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa
    Almaani, Noor
    Liu, Lu
    Dopping-Hepenstal, Patricia J. C.
    Lai-Cheong, Joey E.
    Wong, Alvin
    Nanda, Arti
    Moss, Celia
    Martinez, Anna E.
    Mellerio, Jemima E.
    McGrath, John A.
    ACTA DERMATO-VENEREOLOGICA, 2011, 91 (03) : 262 - 266
  • [6] Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa
    Lin, GT
    Chen, SK
    Liu, CS
    Wang, WH
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2000, 99 (09) : 693 - 697
  • [7] The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
    van den Akker, Peter C.
    Mellerio, Jemima E.
    Martinez, Anna E.
    Liu, Lu
    Meijer, Rowdy
    Dopping-Hepenstal, Patricia J. C.
    van Essen, Anthonie J.
    Scheffer, Hans
    Hofstra, Robert M. W.
    McGrath, John A.
    Jonkman, Marcel F.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 (03) : 160 - 167
  • [8] The Inversa Type of Recessive Dystrophic Epidermolysis Bullosa is Caused by Specific Arginine and Glycine Substitutions in Type VII Collagen
    van den Akker, Peter
    Mellerio, Jemima
    Martinez, Anna
    Liu, Lu
    Dopping-Hepenstal, Patricia
    van Essen, Anthonie
    Scheffer, Hans
    Hofstra, Robert
    McGrath, John
    Jonkman, Marcel
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 : S78 - S78
  • [9] Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa
    Pendaries, V.
    Gasc, G.
    Titeux, M.
    Leroux, C.
    Vitezica, Z. G.
    Mejia, J. E.
    Decha, A.
    Loiseau, P.
    Bodemer, C.
    Prost-Squarcioni, C.
    Hovnanian, A.
    GENE THERAPY, 2010, 17 (07) : 930 - 937
  • [10] Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa
    V Pendaries
    G Gasc
    M Titeux
    C Leroux
    Z G Vitezica
    J E Mejía
    A Décha
    P Loiseau
    C Bodemer
    C Prost-Squarcioni
    A Hovnanian
    Gene Therapy, 2010, 17 : 930 - 937