The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family
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DOI: 10.1159/000488163
Abstract: Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal… read more here.
Keywords: col4a3 col4a4; benign familial; familial hematuria;
Identification of COL4A4 variants in Chinese patients with familial hematuria
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1064491
Abstract: Background: Benign familial hematuria and Alport syndrome are common causes of familial hematuria among children and young adults, which are attributable to variants in the collagen type IV alpha chain genes, COL4A3, COL4A4, or COL4A5.… read more here.
Keywords: variants chinese; familial hematuria; col4a4; col4a4 variants ... See more keywords