Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

David F. Barker, Sirkka Liisa Hostikka, Jing Zhou et al. · Science · 1990 · 872 citations

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 574 citations

Genotype–Phenotype Correlation in X-Linked Alport Syndrome

Mir Reza Bekheirnia, Berenice Reed, Martin C. Gregory et al. · Journal of the American Society of Nephrology · 2010 · 273 citations

Genetic Testing, Mendelian Disorder, Genetic Disorder +12

Collagen (<i>COL4A</i>) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Christine Gast, Reuben J. Pengelly, Matthew Lyon et al. · Nephrology Dialysis Transplantation · 2015 · 242 citations · Full text

Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome

Henny H. Lemmink, Toshlo MochlzukJ, Lambertus P. van den Heuvel et al. · Human Molecular Genetics · 1994 · 215 citations

Fibrosis, Unrelated Patients, Mendelian Disorder +12