Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
Piersall
L D
LD
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Dietz
H C
HC
Hall
B D
BD
Cadle
R G
RG
Pyeritz
R E
RE
Francomano
C A
CA
McIntosh
I
I
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003545:Cysteine; D017931:DNA Primers; D004815:Epidermal Growth Factor / Q000378:metabolism; D000071837:Fibrillins; D014644:Genetic Variation; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics* / Q000378:metabolism; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D000071837:Fibrillins; D008840:Microfilament Proteins; D004815:Epidermal Growth Factor; D003545:Cysteine