A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State

Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation (accounts for less than 5% of AS cases) and is widely believed to be a consequence of heterozygous variants in the COL4A3 an...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Cheng, Song, Yuan, Chen, Zhaowei, Yuan, Xiaohan, Chen, Xinhua, Ding, Guohua, Guan, Yang, McGrath, Mary, Song, Chunhua, Tong, Yongqing, Wang, Huiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614519/
https://www.ncbi.nlm.nih.gov/pubmed/31312213
http://dx.doi.org/10.3389/fgene.2019.00628

Ejemplares similares

Ejemplares similares