title: P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
authors.forename: Y
authors.initials: Y
authors.lastname: Watanabe
authors.forename: S
authors.initials: S
authors.lastname: Yano
authors.forename: Y
authors.initials: Y
authors.lastname: Koga
authors.forename: S
authors.initials: S
authors.lastname: Yukizane
authors.forename: A
authors.initials: A
authors.lastname: Nishiyori
authors.forename: M
authors.initials: M
authors.lastname: Yoshino
authors.forename: H
authors.initials: H
authors.lastname: Kato
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: M
authors.initials: M
authors.lastname: Adachi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005787:Gene Frequency; D006330:Heart Defects, Congenital / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D015183:Restriction Mapping; D013577:Syndrome; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines