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
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
  • [21] A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa
    Mellerio, JE
    Salas-alanis, JC
    Amaya-Guerra, M
    Tamez, E
    Ashton, GHS
    Mohammedi, R
    Eady, RAJ
    McGrath, JA
    EXPERIMENTAL DERMATOLOGY, 1999, 8 (01) : 22 - 29
  • [22] Collagen type VII (COL7A1) mutation survey and genotype-phenotype correlation in Italian patients affected by dystrophic epidermolysis bullosa
    Castiglia, C
    Gardella, R
    Posteraro, P
    Tadini, G
    Barlati, S
    McGrath, J
    Colombi, M
    Zambruno, G
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 119 (03) : 719 - 719
  • [23] 3′ trans-splicing repair of COL7A1 mutations in recessive dystrophic epidermolysis bullosa patients
    Murauer, Eva M.
    Gache, Yannick
    Larcher, Fernando
    Del Rio, Marcela
    Muss, Wolfgang
    Meneguzzi, Guerrino
    Hintner, Helmut
    Bauer, Johann W.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 : S75 - S75
  • [24] Type VII collagen gene (COL7A1) mutation screening in recessive dystrophic epidermolysis bullosa using the protein truncation test.
    Whittock, NV
    Mathew, C
    McGrath, JA
    Eady, RAJ
    Mellerio, JE
    Abbs, S
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (04) : 617 - 617
  • [25] Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations
    Von Bartenwerffer, Wibke
    Has, Cristina
    Arin, Meral J.
    Tantcheva-Poor, Iliana
    Kreuter, Alexander
    Kremer, Kim
    Arshah, Tarek
    Hoffmann, Michael
    Eming, Sabine A.
    Kohlhase, Juergen
    Krieg, Thomas
    Bruckner-Tuderman, Leena
    Hartmann, Karin
    EUROPEAN JOURNAL OF DERMATOLOGY, 2011, 21 (02) : 170 - 172
  • [26] A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa
    Christiano, AM
    DAlessio, M
    Paradisi, M
    Angelo, C
    Mazzanti, C
    Puddu, P
    Uitto, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 679 - 684
  • [27] A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene
    Suzuki, S.
    Shimomura, Y.
    Yamamoto, Y.
    Kariya, N.
    Shibuya, M.
    Ito, M.
    Fujiwara, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (04) : 838 - 840
  • [28] Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type
    Jiang, W
    Sun, Y
    Li, S
    Chen, XX
    Bu, DF
    Zhu, XJ
    BRITISH JOURNAL OF DERMATOLOGY, 2005, 152 (06) : 1357 - 1359
  • [29] Allelic heterogeneity of type VII collagen gene (COL7A1) mutations in epidermolysis bullosa pruriginosa.
    Mellerlo, JE
    Ashton, GHS
    Salas-Alanis, JC
    Lyon, CC
    Griffiths, WAD
    Atherton, DJ
    Eady, RAJ
    McGrath, JA
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (04) : 508 - 508
  • [30] Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients
    Ryoo, YW
    Kim, BC
    Lee, KS
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2001, 26 (02) : 125 - 132