TY - GEN AU - Minucci,Angelo AU - Capoluongo,Ettore AU - Concolino,Paola AU - Concetta,Santonocito AU - Zuppi,Cecilia AU - Giardina,Bruno TI - Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome SN - 0340-6717 PY - 2008///0402 KW - Amino Acid Substitution KW - Codon, Nonsense KW - Collagen Type IV KW - genetics KW - Female KW - Humans KW - Male KW - Nephritis, Hereditary N1 - Publication Type: Journal Article ER -