A Male Senior with Alport Syndrome in Digenic Inheritance of COL4A3 and 4A4

被引:0
|
作者
Koga, Shinichiro [1 ]
机构
[1] Tokyo Metropolitan Police Hosp, Dept Med, Sect Nephrol & Hypertens, Tokyo, Japan
来源
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
PUB173
引用
收藏
页码:814 / 814
页数:1
相关论文
共 50 条
  • [1] COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome
    Storey, Helen
    Savige, Judy
    Sivakumar, Vanessa
    Abbs, Stephen
    Flinter, Frances A.
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2013, 24 (12): : 1945 - 1954
  • [2] Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
    Liu, Jian-Hong
    Wei, Xiu-Xiu
    Li, Ang
    Cui, Ying-Xia
    Xia, Xin-Yi
    Qin, Wei-Song
    Zhang, Ming-Chao
    Gao, Er-Zhi
    Sun, Jun
    Gao, Chun-Lin
    Liu, Feng-Xia
    Wu, Qiu-Yue
    Li, Wei-Wei
    Asan
    Liu, Zhi-Hong
    Li, Xiao-Jun
    [J]. PLOS ONE, 2017, 12 (05):
  • [3] Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome
    Lu, W
    Phillips, CL
    Killen, PD
    Hlaing, T
    Harrison, WR
    Elder, FFB
    Miner, JH
    Overbeek, PA
    Meisler, MH
    [J]. GENOMICS, 1999, 61 (02) : 113 - 124
  • [4] Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report
    Rao, Dipti
    Maas, Rutger J.
    Cornelissen, Elisabeth A.
    Wetzels, Jack F.
    van Geel, Michel
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 443 - 443
  • [5] Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report
    Rao, Dipti
    Maas, Rutger
    Cornelissen, Marlies
    Wetzels, Jack
    van Geel, Michel
    [J]. NEPHRON, 2024,
  • [6] A case of mild phenotype Alport syndrome caused by COL4A3 mutations
    Masafumi Kamijo
    Mineaki Kitamura
    Kumiko Muta
    Tadashi Uramatsu
    Yoko Obata
    Kandai Nozu
    Hiroshi Kaito
    Kazumoto Iijima
    Hiroshi Mukae
    Tomoya Nishino
    [J]. CEN Case Reports, 2017, 6 (2) : 189 - 193
  • [7] Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome
    Cerkauskaite, Agne
    Savige, Judy
    Janonyte, Karolina
    Jeremiciute, Ieva
    Miglinas, Marius
    Kazenaite, Edita
    Laurinavicius, Arvydas
    Strupaite-Sileikiene, Rasa
    Vainutiene, Vija
    Burnyte, Birute
    Jankauskiene, Augustina
    Rolfs, Arndt
    Bauer, Peter
    Schroeder, Sabine
    Cerkauskiene, Rimante
    [J]. FRONTIERS IN MEDICINE, 2022, 9
  • [8] Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
    Wang, Duocai
    Pan, Meize
    Li, Hang
    Li, Minchun
    Li, Ping
    Xiong, Fu
    Xiao, Hongbo
    [J]. BMC MEDICAL GENOMICS, 2024, 17 (01)
  • [9] Autosomal-dominant Alport syndrome:: Natural history of a disease due to COL4A3 or COL4A4 gene
    Pescucci, C
    Mari, F
    Longo, I
    Vogiatzi, P
    Caselli, R
    Scala, E
    Abaterusso, C
    Gusmano, R
    Seri, M
    Miglietti, N
    Bresin, E
    Renieri, A
    [J]. KIDNEY INTERNATIONAL, 2004, 65 (05) : 1598 - 1603
  • [10] Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
    Guo, Liwei
    Li, Duan
    Dong, Shuangshuang
    Wang, Donghao
    Yang, Baosheng
    Huang, Yanmei
    [J]. JOURNAL OF GENETICS, 2017, 96 (02) : 389 - 392