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A new missense mutation of fibrillin in a patient with Marfan syndrome.
Hewett, D R; Lynch, J R; Child, A; Sykes, B C.
Affiliation
  • Hewett DR; Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, Headington, UK.
J Med Genet ; 31(4): 338-9, 1994 Apr.
Article in En | MEDLINE | ID: mdl-8071963
A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Marfan Syndrome / Microfilament Proteins Limits: Aged / Female / Humans Language: En Journal: J Med Genet Year: 1994 Document type: Article Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Marfan Syndrome / Microfilament Proteins Limits: Aged / Female / Humans Language: En Journal: J Med Genet Year: 1994 Document type: Article Country of publication: United kingdom