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Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only for the diagnosis of AS but also for the establi...

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Detalles Bibliográficos
Autores principales:	Hu, Yanglin, Li, Wei, Tian, Lulu, Fu, Shuai, Min, Yonglong, Liu, Jia, Xiong, Fei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9001967/ https://www.ncbi.nlm.nih.gov/pubmed/35422838 http://dx.doi.org/10.3389/fgene.2022.839212

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