A new missense mutation of fibrillin in a patient with Marfan syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 8071963.
- Also identified by PMC identifier 1049811.
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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.
Medical subject headings
- Marfan Syndrome
- Microfilament Proteins
- Point Mutation