AN 8-BP DELETION IN EXON-51 OF THE COL4A5 GENE OF AN ALPORT SYNDROME PATIENT

被引：10
|
作者：
BOYE, E [1 ]
FLINTER, FA [1 ]
BOBROW, M [1 ]
HARRIS, A [1 ]
机构：
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
来源：
HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 05期
基金：
英国医学研究理事会;
关键词：
D O I：
10.1093/hmg/2.5.595
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
[No abstract available]
引用
收藏
页码：595 / 596
页数：2
相关论文
共 50 条
  • [1] ALPORT SYNDROME CAUSED BY A 5' DELETION WITHIN THE COL4A5 GENE
    RENIERI, A
    SERI, M
    MYERS, JC
    PIHLAJANIEMI, T
    SESSA, A
    RIZZONI, G
    DEMARCHI, M
    HUMAN GENETICS, 1992, 89 (01) : 120 - 121
  • [2] MUTATIONS IN THE COL4A5 GENE IN ALPORT SYNDROME
    SMEETS, H
    SCHRODER, C
    MELENHORST, J
    NELEN, M
    BRUNNER, H
    ROPERS, H
    MONNENS, L
    VANOOST, B
    KIDNEY INTERNATIONAL, 1991, 40 (05) : 980 - 980
  • [3] Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients
    Nozu, Kandai
    Krol, Rafal Przybyslaw
    Ohtsuka, Yasufumi
    Nakanishi, Koichi
    Yoshikawa, Norishige
    Nozu, Yoshimi
    Kaito, Hiroshi
    Kanda, Kyoko
    Hashimura, Yuya
    Hamasaki, Yuhei
    Iijima, Kazumoto
    Matsuo, Masafumi
    PEDIATRIC NEPHROLOGY, 2008, 23 (11) : 2085 - 2090
  • [4] Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients
    Kandai Nozu
    Rafal Przybyslaw Krol
    Yasufumi Ohtsuka
    Koichi Nakanishi
    Norishige Yoshikawa
    Yoshimi Nozu
    Hiroshi Kaito
    Kyoko Kanda
    Yuya Hashimura
    Yuhei Hamasaki
    Kazumoto Iijima
    Masafumi Matsuo
    Pediatric Nephrology, 2008, 23 : 2085 - 2090
  • [5] Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY
    Nozu, Kandai
    Iijima, Kazumoto
    Ohtsuka, Yasufumi
    Fu, Xue Jun
    Kaito, Hiroshi
    Nakanishi, Koichi
    Vorechovsky, Igor
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2014, 2 (05): : 451 - 453
  • [6] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME
    BARKER, DF
    HOSTIKKA, SL
    ZHOU, J
    CHOW, LT
    OLIPHANT, AR
    GERKEN, SC
    GREGORY, MC
    SKOLNICK, MH
    ATKIN, CL
    TRYGGVASON, K
    SCIENCE, 1990, 248 (4960) : 1224 - 1227
  • [7] Mutational analysis of COL4A5 gene in Korean Alport syndrome
    H. I. Cheong
    H. W. Park
    I. S. Ha
    Y. Choi
    Pediatric Nephrology, 2000, 14 : 117 - 121
  • [8] Mutational analysis of COL4A5 gene in Korean Alport syndrome
    Cheong, HI
    Park, HW
    Ha, IS
    Choi, Y
    PEDIATRIC NEPHROLOGY, 2000, 14 (02) : 117 - 121
  • [9] A molecular genetic study of COL4A5 gene in Alport syndrome (AS).
    Cheong, HI
    Park, HW
    Choi, Y
    KIDNEY INTERNATIONAL, 1999, 55 (04) : 1599 - 1599
  • [10] ABERRANT SPLICING OF THE COL4A5 GENE IN PATIENTS WITH ALPORT SYNDROME
    LEMMINK, HH
    KLUIJTMANS, LAJ
    BRUNNER, HG
    SCHRODER, CH
    KNEBELMANN, B
    JELINKOVA, E
    VANOOST, BA
    MONNENS, LAH
    SMEETS, HJM
    HUMAN MOLECULAR GENETICS, 1994, 3 (02) : 317 - 322
12345