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
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Ben Moshe Y et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32939031 (PubMed )
Supplement: 41436_2020_963_MOESM3_ESM.xlsx › Sheet1
Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.
Savige J
Pediatric Nephrology (berlin, Germany), 2020
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
Rana K et al.
Pediatric Nephrology (berlin, Germany), 2007
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