Mutations in the COL4A4 gene in thin basement membrane disease

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

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

Hematuria: A simple method for identifying glomerular bleeding

K. F. Fairley, Douglas F. Birch · Kidney International · 1982 · 295 citations · Full text

Medicine, Nephrology, Pathology +9