Open AccessIdentification of a novel pathogenic COL4A3 gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report
Author(s) -
Daan Nie,
Chaorui Xia,
Kecheng Huang,
Jie Liu,
Ting Gan,
Cheng Wen,
Zhipeng Zeng
Publication year - 2021
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2021.1466
Subject(s) - alport syndrome , mutation , exome sequencing , type iv collagen , genetics , glomerular basement membrane , gene , biology , medicine , renal biopsy , point mutation , sanger sequencing , glomerulonephritis , pathology , bioinformatics , kidney , laminin , cell