A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
Hewett
D R
DR
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
Lynch
J R
JR
Smith
R
R
Sykes
B C
BC
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D002118:Calcium / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004815:Epidermal Growth Factor / Q000235:genetics / Q000378:metabolism; D005260:Female; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000378:metabolism; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
D000071837:Fibrillins; D008840:Microfilament Proteins; D004815:Epidermal Growth Factor; D004247:DNA; D002118:Calcium