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