A new missense mutation of fibrillin in a patient with Marfan syndrome.
AUTOR(ES)
Hewett, D R
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049811Documentos Relacionados
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