Identification of two splicing mutations in collagen type VII gene (COL7A1) in an Italian patient affected by recessive dystrophic epidermolysis bullosa localisata.

被引：0
|
作者：
Barlati, S
Gardella, R
Belletti, L
Zoppi, N
Marini, D
Colombi, M
机构：
[1] UNIV BRESCIA,DEPT BIOMED SCI & BIOTECHNOL,DIV BIOL & GENET,I-25123 BRESCIA,ITALY
[2] UNIV BRESCIA,INST CLIN DERMATOL,I-25123 BRESCIA,ITALY
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1996年 / 107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：39 / 39
页数：1
相关论文
共 50 条
  • [41] Functional correction of recessive dystrophic epidermolysis bullosa by 3'trans-splicing of COL7A1
    Murauer, E. M.
    Gache, Y.
    Laguzzi, F. Larcher
    Muss, W.
    Meneguzzi, G.
    Hintner, H. H.
    Bauer, J. W.
    EXPERIMENTAL DERMATOLOGY, 2010, 19 (02) : 178 - 178
  • [42] A POINT MUTATION OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 2 COUSINS AND 3 UNRELATED PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    DUNNILL, MGS
    RICHARDS, AJ
    MILANA, G
    MOLLICA, F
    EADY, RAJ
    POPE, FM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (03) : 438 - 438
  • [43] Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa:: Implications for genetic counseling
    Rouan, F
    Pulkkinen, L
    Jonkman, MF
    Bauer, JW
    Cserhalmi-Friedman, PB
    Christiano, AM
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (06) : 1210 - 1213
  • [44] PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 3 BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    CHRISTIANO, AM
    SUGA, Y
    GREENSPAN, DS
    OGAWA, H
    UITTO, J
    JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (03): : 1328 - 1334
  • [45] Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa
    Kon, A
    Pulkkinen, L
    Ishida-Yamamoto, A
    Hashimoto, I
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (03) : 534 - 537
  • [46] A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    DUNNILL, MGS
    RICHARDS, AJ
    MILANA, G
    MOLLICA, F
    EADY, RAJ
    POPE, FM
    HUMAN MOLECULAR GENETICS, 1994, 3 (09) : 1693 - 1694
  • [47] Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa
    Izmiryan, Araksya
    Danos, Olivier
    Hovnanian, Alain
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (04) : 872 - 875
  • [48] Two different novel splice site mutations in the type VII collagen gene in a patient with recessive dystrophic epidermolysis bullosa.
    Tamai, K
    McGrath, JA
    Kon, A
    Nomura, K
    Christiano, A
    Hashimoto, I
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (05) : 24 - 24
  • [49] Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1
    Zhou, Mandi
    Zheng, Zhixin
    Teng, Jinglei
    Yang, Chao
    Zeng, Ming
    SKIN RESEARCH AND TECHNOLOGY, 2024, 30 (06)
  • [50] Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene
    Abdou, A.
    Daoui, L.
    Charlesworth, A.
    Chiaverini, C.
    Algros, M-P
    Puzenat, E.
    Chantegret, C.
    Vabres, P.
    Lacour, J-P
    Aubin, F.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2015, 142 (05): : 346 - 349
12345