Alport syndrome - An inherited disorder of renal, ocular, and cochlear basement membranes

被引:161
作者
Kashtan, CE [1 ]
机构
[1] Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA
关键词
D O I
10.1097/00005792-199909000-00005
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:338 / 360
页数:23
相关论文
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  • [1] Hereditary familial congenital haemorrhagic nephritis.
    Alport, AC
    [J]. BMJ-BRITISH MEDICAL JOURNAL, 1927, 1927 : 504 - 506
  • [2] Antignac C, 1996, Contrib Nephrol, V117, P172
  • [3] DELETIONS IN THE COL4A5 COLLAGEN GENE IN X-LINKED ALPORT SYNDROME - CHARACTERIZATION OF THE PATHOLOGICAL TRANSCRIPTS IN NONRENAL CELLS AND CORRELATION WITH DISEASE EXPRESSION
    ANTIGNAC, C
    KNEBELMANN, B
    DROUOT, L
    GROS, F
    DESCHENES, G
    HORSCAYLA, MC
    ZHOU, J
    TRYGGVASON, K
    GRUNFELD, JP
    BROYER, M
    GUBLER, MC
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) : 1195 - 1207
  • [4] ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS - DELETIONS IN THE 5' END OF THE COL4A5 COLLAGEN GENE
    ANTIGNAC, C
    ZHOU, J
    SANAK, M
    COCHAT, P
    ROUSSEL, B
    DESCHENES, G
    GROS, F
    KNEBELMANN, B
    HORSCAYLA, MC
    TRYGGVASON, K
    GUBLER, MC
    [J]. KIDNEY INTERNATIONAL, 1992, 42 (05) : 1178 - 1183
  • [5] HEREDITARY NEPHRITIS - EARLY CLINICAL, FUNCTIONAL, AND MORPHOLOGICAL STUDIES
    ANTONOVYCH, TT
    DEASY, PF
    TINA, LU
    DALBORA, JB
    HOLLERMAN, CE
    CALCAGNO, PL
    [J]. PEDIATRIC RESEARCH, 1969, 3 (06) : 545 - +
  • [6] ATKIN CL, 1988, AM J HUM GENET, V42, P249
  • [7] ATTACHMENT OF CELLS TO BASEMENT-MEMBRANE COLLAGEN TYPE-IV
    AUMAILLEY, M
    TIMPL, R
    [J]. JOURNAL OF CELL BIOLOGY, 1986, 103 (04) : 1569 - 1575
  • [8] 2 CA-DINUCLEOTIDE POLYMORPHISMS AT THE COL4A5 (ALPORT SYNDROME) GENE IN XQ22
    BARKER, DF
    CLEVERLY, J
    FAIN, PR
    [J]. NUCLEIC ACIDS RESEARCH, 1992, 20 (04) : 929 - 929
  • [9] Barker DF, 1996, AM J HUM GENET, V58, P1157
  • [10] 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
    [J]. SCIENCE, 1990, 248 (4960) : 1224 - 1227