Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.
Ellison
Jay
J
Medical Genetics, Mayo Clinic, Rochester, 55905, USA. ellison.jay@mayo.edu
D001483:Base Sequence; D003062:Codon; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006417:Hematuria / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D009711:Nucleotides / Q000235:genetics*; D011507:Proteinuria / Q000235:genetics; D017422:Sequence Analysis, DNA
C478159:COL4A5 protein, human; D003062:Codon; D024141:Collagen Type IV; D009711:Nucleotides