Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
Halliday
D J
DJ
Hutchinson
S
S
Lonie
L
L
Hurst
J A
JA
Firth
H
H
Handford
P A
PA
Wordsworth
P
P
D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D000071838:Fibrillin-1; D000071837:Fibrillins; D005784:Gene Amplification / Q000235:genetics; D020180:Heteroduplex Analysis / Q000379:methods; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009690:Nucleic Acid Conformation; D009691:Nucleic Acid Denaturation / Q000235:genetics; D010641:Phenotype; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines