Associated Papers
Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.
Huang Y et al.
Renal Failure, 2025
41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M1
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37214819 (PubMed )
Supplement: media-2.xlsx › M1
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome.
Kohler J et al.
Kidney360, 2022
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
36292665 (PubMed )
Supplement: genes-13-01779-s001.zip › Table_S5.xlsx › 145_cases
Identification of COL4A4 variants in Chinese patients with familial hematuria.
Gao Y et al.
Frontiers in Genetics, 2022
A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.
Xu Y et al.
Scientific Reports, 2016
Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza M et al.
Kidney International, 2003
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
Badenas C et al.
Journal of the American Society of Nephrology : Jasn, 2002
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