A POINT MUTATION OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 2 COUSINS AND 3 UNRELATED PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

被引:0
|
作者
DUNNILL, MGS
RICHARDS, AJ
MILANA, G
MOLLICA, F
EADY, RAJ
POPE, FM
机构
[1] NORTHWICK PK HOSP & CLIN RES CTR,MRC,CLIN RES CTR,HARROW,MIDDX,ENGLAND
[2] ST THOMAS HOSP,ST JOHNS INST DERMATOL,LONDON,ENGLAND
[3] UNIV CATANIA,PEDIAT CLIN,CATANIA,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:438 / 438
页数:1
相关论文
共 50 条
  • [1] 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
  • [2] RECURRENT PREMATURE TERMINATION CODON MUTATION IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN 2 FAMILIES WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN ITALY
    CIATTI, S
    CHRISTIANO, AM
    PARADISI, M
    MORRICONE, A
    ANGELO, C
    MAZZANTI, C
    CAVALIERI, R
    UITTO, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 102 (04) : 621 - 621
  • [3] USE OF TYPE-VII COLLAGEN GENE (COL7A1) MARKERS IN PRENATAL-DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    DUNNILL, MGS
    RODECK, CH
    RICHARDS, AJ
    ATHERTON, D
    LAKE, BD
    PETROU, M
    EADY, RAJ
    POPE, FM
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (09) : 749 - 750
  • [4] HETEROGENEITY OF MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DIFFERENT FORMS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    UITTO, J
    HOVNANIAN, A
    CHRISTIANO, AM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (06) : 854 - 854
  • [5] 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
  • [6] PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    UITTO, J
    HOVNANIAN, A
    CHRISTIANO, AM
    PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS, 1995, 107 (02) : 245 - 252
  • [7] PREMATURE TERMINATION CODONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE, MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    CHRISTIANO, AM
    ANHALT, G
    GIBBONS, S
    BAUER, EA
    UITTO, J
    GENOMICS, 1994, 21 (01) : 160 - 168
  • [8] PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 3 JAPANESE BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
    CHRISTIANO, AM
    SUGA, Y
    HOVNANIAN, A
    GREENSPAN, DS
    OGAWA, H
    UITTO, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (06) : 845 - 845
  • [9] Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa
    Salas-Alanis, JC
    Mellerio, JE
    Amaya-Guerra, M
    Ashton, GHS
    Eady, RAJ
    McGrath, JA
    BRITISH JOURNAL OF DERMATOLOGY, 1998, 138 (05) : 852 - 858
  • [10] A RECURRENT PREMATURE TERMINATION CODON MUTATION (498INSA) IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN 2 UNRELATED FAMILIES WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA (RDEB) IN ITALY
    MORRICONE, A
    CHRISTIANO, AM
    PARADISI, M
    ANGELO, C
    CAVALIERI, R
    UITTO, J
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (06) : 852 - 852