Genetic cause of X-linked Alport syndrome in a family of domestic dogs

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

David F. Barker, Sirkka Liisa Hostikka, Jing Zhou et al. · Science · 1990 · 881 citations

Medicine, Genetics, Molecular Genetics +17

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis.

Billy G. Hudson, Stephen T. Reeders, Karl Tryggvason · Journal of Biological Chemistry · 1993 · 621 citations · Full text

Medicine, Molecular Genetics, Pathology +13

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 595 citations

Life Sciences, Genetics, Molecular Genetics +16

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

Toshio Mochizuki, Henny H. Lemmink, Mariko Mariyama et al. · Nature Genetics · 1994 · 515 citations

Life Sciences, Genetics, Molecular Genetics +9

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome.

Dominic Cosgrove, Daniel T. Meehan, James A. Grunkemeyer et al. · Genes & Development · 1996 · 396 citations · Full text

Medicine, Nephrology, Pathology +17