Gene symbol: COL4A5. Disease: Alport Syndrome.
Savige
Judy
J
University of Melbourne, Department of Medicine, Northern Hospital, 185 Cooper Street, Epping, 3076 Melbourne, VIC, Australia. jasavige@unimelb.edu.au
Tan
Rachel
R
Colville
Deb
D
Wang
Yanyan
Y
Parkin
John D
JD
Mathew
Ninan
N
Savige
Judy
J
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D018388:Codon, Terminator; D024141:Collagen Type IV / Q000235:genetics*; D006801:Humans; D009394:Nephritis, Hereditary / Q000235:genetics*; D017354:Point Mutation
C478159:COL4A5 protein, human; D003062:Codon; D018389:Codon, Nonsense; D018388:Codon, Terminator; D024141:Collagen Type IV