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
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
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
García-Aznar JM et al.
Journal of Clinical Medicine, 2022
36013122 (PubMed )
Supplement: jcm-11-04883-s001.zip › jcm-1756647-supplementary.pdf
Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series.
Šenjug P et al.
Croatian Medical Journal, 2021
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.
Xu Y et al.
Scientific Reports, 2016
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA et al.
Journal of Medical Genetics, 2015
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