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A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

BACKGROUND: Focal segmental glomerulosclerosis (FSGS), as the frequent primary glomerular diseases in adults, accounts for symptomless proteinuria or nephrotic syndrome with or without renal insufficiency. As the crucial lesion of chronic kidney disease (CKD), accumulating evidence from recent studi...

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Detalles Bibliográficos
Autores principales: Fan, Liang‐Liang, Liu, Lv, Luo, Fang‐Mei, Du, Ran, Wang, Chen‐Yu, Dong, Yi, Liu, Ji‐Shi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767549/
https://www.ncbi.nlm.nih.gov/pubmed/33159707
http://dx.doi.org/10.1002/mgg3.1545