Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.
Minucci
Angelo
A
Catholic University of Rome, Institute of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168, Roma, Italy.
Capoluongo
Ettore
E
Concolino
Paola
P
Concetta
Santonocito
S
Zuppi
Cecilia
C
Giardina
Bruno
B
D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*
C478159:COL4A5 protein, human; D018389:Codon, Nonsense; D024141:Collagen Type IV