An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient.
Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.
E
E
Boye
F A
FA
Flinter
M
M
Bobrow
A
A
Harris
D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D017384:Sequence Deletion
D003094:Collagen; D004247:DNA