AUTOSOMAL-DOMINANT ALPORT SYNDROME LINKED TO MARKERS ON 2Q FLANKING THE COL4A3 COL4A4 GENES

被引：0
|
作者：
JEFFERSON, JA
HUGHES, AE
HILL, C
MAXWELL, AP
DOHERTY, CC
NEVIN, NC
机构：
[1] BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND
[2] QUEENS UNIV BELFAST,DEPT MED GENET,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND
[3] ROYAL VICTORIA HOSP,DEPT PATHOL,BELFAST BT12 6BA,NORTH IRELAND
来源：
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 1994年 / 5卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：647 / 647
页数：1
相关论文
共 50 条
  • [31] COL4A3/COL4A4 AS A CAUSE OF MULTICYSTIC KIDNEY DISEASE
    Bosch, Teresa Bada
    Sevillano, Angel
    Afonso, Sara
    Gutierrez, Eduardo
    Escribano, Teresa Cavero
    Gutierrez, Elena
    Garcia, Florencio
    Morales, Enrique
    Caro Espada, Paula Jara
    Praga, Manuel
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2021, 36
  • [32] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.
    Badenas, C
    Tazon, B
    Heidet, L
    Arrondel, C
    Mila, M
    Antignac, C
    Darnell, A
    Torra, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 641 - 641
  • [33] Alport综合征家系COL4A3、COL4A4、COL4A5基因突变分析
    何威
    李文成
    孙丽娟
    邱桂霞
    徐建峰
    马媛媛
    王伟光
    国际医药卫生导报, 2019, (23) : 3823 - 3826
  • [34] STUDY OF THE COL4A3 GENE AND DESCRIPTION OF NEW MUTATIONS RESPONSIBLE FOR AUTOSOMAL DOMINANT ALPORT SYNDROME
    Rosado, Consolacion
    Bueno, Elena
    Fraile, Pilar
    Lucas, Cristina
    Garcia-Cosmes, Pedro
    Matias Tabernero, Jose
    Gonzalez, Rogelio
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 : 318 - 319
  • [35] Collagen COL4A3 knockout: A mouse model for autosomal Alport syndrome
    Cosgrove, D
    Meehan, DT
    Grunkemeyer, JA
    Kornak, JM
    Sayers, R
    Hunter, WJ
    Samuelson, GC
    GENES & DEVELOPMENT, 1996, 10 (23) : 2981 - 2992
  • [36] Deciphering the pathogenicity of COL4A4 heterozygous splicing mutations and the genotypephenotype correlation in autosomal dominant Alport syndrome
    戴选彤
    ChinaMedicalAbstracts(InternalMedicine), 2023, 40 (02) : 114 - 115
  • [37] Canine COL4A3 and COL4A4:: Sequencing, mapping and genomic organization
    Wiersma, AC
    Millon, LV
    Hestand, MS
    Van Oost, BA
    Bannasch, DL
    DNA SEQUENCE, 2005, 16 (04): : 241 - 251
  • [38] Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
    Mastrangelo, Antonio
    Madeira, Catarina
    Castorina, Pierangela
    Giani, Marisa
    Montini, Giovanni
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 (12) : 2398 - 2407
  • [39] GENETIC-MAPPING OF ALPP, CGC, COL4A3 AND COL4A4, 4 GENES LOCATED AT THE DISTAL PART OF CHROMOSOME-2Q
    KRUSE, TA
    FLINT, T
    REEDERS, ST
    HERTZ, JM
    CYTOGENETICS AND CELL GENETICS, 1993, 64 (02): : 92 - 92
  • [40] Heterozygous COL4A3 and COL4A4 patients with classic Alport syndrome morphology - unexpected genetic testing results after kidney biopsy
    Senjug, P.
    Horacek, M.
    Martic, T. Nikuseva
    Durdov, M. Glavina
    Dordevic, G.
    Coric, M.
    Ljubanovic, D. Galesic
    VIRCHOWS ARCHIV, 2021, 479 (SUPPL 1) : S43 - S43
12345