COL4A4

Publications

Kashtan CE et al. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int, 93: 1045-1051, 2018 10.1016/j.kint.2017.12.018.

Savige J et al. Thin basement membrane nephropathy. Kidney Int, 64: 1169-1178, 2003 10.1046/j.1523-1755.2003.00234.x

Gibson J et al. Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J Am Soc Nephrol, 32: 2273-2290, 2021 10.1681/ASN.2020071065

Storey H et al. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol, 24: 1945-1954, 2013 10.1681/ASN.2012100985

Savige J et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol, 24: 364-375, 2013 10.1681/ASN.2012020148

Savige J et al. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol, 10: 703-709, 2015 10.2215/CJN.10581014

Zhou J et al. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science, 261: 1167-1169, 1993 10.1126/science.8356449

Gross O et al. Safety and Efficacy of the ACE-Inhibitor Ramipril in Alport Syndrome: The Double-Blind, Randomized, Placebo-Controlled, Multicenter Phase III EARLY PRO-TECT Alport Trial in Pediatric Patients. ISRN Pediatr, 2012: 436046, 2012 10.5402/2012/436046

Savige J et al. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. PLoS One, 11: e0161802, 2016 10.1371/journal.pone.0161802

Solanki KV et al. The Phenotypic Spectrum of COL4A3 Heterozygotes. Kidney Int Rep, 8: 2088-2099, 2023 10.1016/j.ekir.2023.07.010