A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

Mutations in the COL4A3 gene are frequently reported to be associated with various types of hereditary nephropathy. COL4A3 encodes the α3 chain of type IV collagen, which is the main structural protein in the basement membrane. Mutations in this gene are always related to kidney performance, and dea...

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Detalles Bibliográficos
Autores principales: Xia, Liang, Cao, Yangjia, Guo, Yang, Ba, Guangyi, Luo, Qiong, Shi, Haibo, Feng, Yanmei, Yin, Shankai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387717/
https://www.ncbi.nlm.nih.gov/pubmed/30881523
http://dx.doi.org/10.1155/2019/8705989

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387717/
https://www.ncbi.nlm.nih.gov/pubmed/30881523
http://dx.doi.org/10.1155/2019/8705989

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