How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

Both thin basement membrane nephropathy (TBMN) and autosomal dominant Alport syndrome (ADAS) are types of hereditary nephritis resulting from heterozygous mutations in COL4A3 or COL4A4 genes. Although TBMN is characterized by hematuria and thinning of the glomerular basement membrane (GBM) with exce...

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Detalles Bibliográficos
Autores principales: Imafuku, Aya, Nozu, Kandai, Sawa, Naoki, Nakanishi, Koichi, Ubara, Yoshifumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371658/
https://www.ncbi.nlm.nih.gov/pubmed/32232700
http://dx.doi.org/10.1007/s10157-020-01880-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371658/
https://www.ncbi.nlm.nih.gov/pubmed/32232700
http://dx.doi.org/10.1007/s10157-020-01880-1

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