Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome

Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV. Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome. The patient was a 25-year-old Chinese woman. She has a histo...

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Detalles Bibliográficos
Autores principales: Wang, Zhendong, Jiang, Baichun, Jin, Shiqi, Hu, Zhao, Liu, Guangyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7673930/
https://www.ncbi.nlm.nih.gov/pubmed/33524082
http://dx.doi.org/10.1155/2020/1626378

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7673930/
https://www.ncbi.nlm.nih.gov/pubmed/33524082
http://dx.doi.org/10.1155/2020/1626378

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