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Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family

Background: Chronic kidney disease, a global public health problem, results in kidney damage or a gradual decline in the glomerular filtration rate. Alport syndrome is commonly characterized by chronic glomerulonephritis caused by a structural disorder in the glomerular basement membrane. Currently,...

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Detalles Bibliográficos
Autores principales: Du, Ran, Liu, Jishi, Hu, Yiqiao, Peng, Song, Fan, Liangliang, Xiang, Rong, Huang, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501878/
https://www.ncbi.nlm.nih.gov/pubmed/36159970
http://dx.doi.org/10.3389/fgene.2022.899006