Identification of COL4A4 variants in Chinese patients with familial hematuria
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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
Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.899006
Abstract: Background: Chronic kidney disease, a global public health problem, results in kidney damage or a gradual decline in the glomerular filtration rate. Alport syndrome is commonly characterized by chronic glomerulonephritis caused by a structural disorder… read more here.
Keywords: col4a4; mutation; alport syndrome; chinese family ... See more keywords
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
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DOI: 10.3389/fmed.2022.838983
Abstract: Background The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and… read more here.
Keywords: missense synonymous; presumed col4a3; col4a4; col4a3 col4a4 ... See more keywords