Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.

Minucci, Angelo

Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome. [electronic resource] - Human genetics Nov 2007 - 414 p. digital

Publication Type: Journal Article

0340-6717


Amino Acid Substitution
Codon, Nonsense
Collagen Type IV--genetics
Female
Humans
Male
Nephritis, Hereditary--genetics