CLONING OF THE HUMAN TYPE-XVII COLLAGEN GENE (COL17A1) - A CANDIDATE GENE FOR JUNCTIONAL EPIDERMOLYSIS-BULLOSA

被引:0
|
作者
GATALICA, B [1 ]
LI, K [1 ]
MCGRATH, JA [1 ]
CHRISTIANO, AM [1 ]
UITTO, J [1 ]
机构
[1] THOMAS JEFFERSON UNIV,PHILADELPHIA,PA 19107
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1818 / 1818
页数:1
相关论文
共 50 条
  • [1] Cloning of the human type XVII collagen gene (COL17Al), a candidate gene for a variant, GABEB, of junctional epidermolysis bullosa
    Gatalica, B
    Li, KH
    McGrath, JA
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 327 - 327
  • [2] Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
    Gatalica, B
    Pulkkinen, L
    Li, KH
    Kuokkanen, K
    Ryynanen, M
    McGrath, JA
    Uitto, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (02) : 352 - 365
  • [3] Type XVII collagen: Cloning of the gene (COL17A1) and detection of pathogenic mutations in non-lethal variants of junctional epidermolysis bullosa.
    Gatalica, B
    Pulkkinen, L
    Li, KH
    McGrath, JA
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (05) : 20 - 20
  • [4] CLONING AND CHARACTERIZATION OF HUMAN TYPE-VII COLLAGEN, THE CANDIDATE GENE IN THE DYSTROPHIC FORMS OF EPIDERMOLYSIS-BULLOSA
    CHRISTIANO, AM
    CHUNGHONET, L
    GREENSPAN, DS
    HOVNANIAN, A
    KNOWLTON, RG
    CHU, ML
    UITTO, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1993, 100 (02) : 206 - 206
  • [5] Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy
    Bauer, JW
    Lanschuetzer, C
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2003, 28 (01) : 53 - 60
  • [6] Junctional Epidermolysis Bullosa in Sprague Dawley Rats Caused by a Frameshift Mutation of Col17a1 Gene
    Katoh, Yoshitaka
    Sato, Akira
    Takahashi, Naofumi
    Nishioka, Yasushi
    Shimizu-Endo, Naoko
    Ito, Tsuyoshi
    Ohnuma-Koyama, Aya
    Shiga, Atsushi
    Yoshida, Toshinori
    Aoyama, Hiroaki
    LABORATORY INVESTIGATION, 2024, 104 (10)
  • [7] Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa
    Kiener, Sarah
    Troyer, Heather
    Ruvolo, Daniel
    Grest, Paula
    Soto, Sara
    Letko, Anna
    Jagannathan, Vidhya
    Leeb, Tosso
    Mauldin, Elizabeth A.
    Yang, Ching
    Rostaher, Ana
    GENES, 2023, 14 (10)
  • [8] A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
    Ruzzi, L
    Pas, H
    Posteraro, P
    Mazzanti, C
    Didona, B
    Owaribe, K
    Meneguzzi, G
    Zambruno, G
    Castiglia, D
    D'Alessio, M
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 116 (01) : 182 - 187
  • [9] Junctional epidermolysis bullosa of late onset caused by COL17A1 mutations
    Yuen, Wing Yan
    Pas, Hendri H.
    Sinke, Richard J.
    Jonkman, Marcel F.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S64 - S64
  • [10] Homozygosity for an intragenic deletion in the gene encoding collagen XVII, COL17A1: 823delA results in lethality in a family with non-herlitz junctional epidermolysis bullosa
    Pasmooij, M.
    Jonkman, M. F.
    Pas, H. H.
    Klingberg, S.
    Pfendner, E.
    Uitto, J.
    Collins, F.
    Widmer, R.
    Murrell, D. F.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 : 38 - 38