Possible Digenic Disease in a Caucasian Family with < b > < i > COL4A3 < /i > < /b > and < b > < i > COL4A5 < /i > < /b > Mutations
We describe a Caucasian family with concomitantCOL4A3 andCOL4A5 mutations, consisting of a novel c.4484A#x3e;GCOL4A3 (p.Gln1495Arg) mutation and a previously reported c.1871G#x3e;ACOL4A5 (p.Gly624Asp) mutation. Our segregation analysis raises the possibility that Alport syndrome resembles also digenic inheritance byCOL4A3/COL4A5.Nephron
Source: Nephron - Category: Urology & Nephrology Source Type: research