Gene symbol: COL4A5. Disease: Alport Syndrome

Hum Genet. 2008 Oct;124(3):301.

Authors

Judy Savige¹, Rachel Tan, Deb Colville, Yanyan Wang, John D Parkin, Ninan Mathew, Judy Savige

Affiliation

¹ University of Melbourne, Department of Medicine, Northern Hospital, 185 Cooper Street, Epping, 3076 Melbourne, VIC, Australia. [email protected]

PMID: 18846626

No abstract available

MeSH terms

Amino Acid Substitution*
Codon / genetics*
Codon, Nonsense*
Codon, Terminator
Collagen Type IV / genetics*
Humans
Nephritis, Hereditary / genetics*
Point Mutation

Substances

COL4A5 protein, human
Codon
Codon, Nonsense
Codon, Terminator
Collagen Type IV