Gene symbol: COL4A5. Disease: Alport syndrome.
Neri
Tauro Maria
TM
Laboratorio di genetica molecolare e biotecnologie diagnostiche, Azienda Ospedaliera Universitaria, Parma, Italy. tneri@ao.pr.it
Sebastio
Paola
P
D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D024141:Collagen Type IV / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000209:etiology; D006801:Humans; D007558:Italy; D007676:Kidney Failure, Chronic / Q000209:etiology; D020125:Mutation, Missense; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D011507:Proteinuria / Q000209:etiology / Q000235:genetics
C478159:COL4A5 protein, human; D018389:Codon, Nonsense; D024141:Collagen Type IV