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

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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Sonraí Bibleagrafaíochta
Main Authors: Hewett, D R, Lynch, J R, Child, A, Sykes, B C
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1994
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049811/
https://ncbi.nlm.nih.gov/pubmed/8071963
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