A new missense mutation of fibrillin in a patient with Marfan syndrome

Hewett, D.R.; Lynch, J.R.; Child, A.; Sykes, B.C.

Journal of Medical Genetics 31(4): 338-339

1994


ISSN/ISBN: 0022-2593
PMID: 8071963
DOI: 10.1136/jmg.31.4.338
Accession: 008053735

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Abstract
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.