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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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| Main Authors: | , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
1994
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049811/ https://ncbi.nlm.nih.gov/pubmed/8071963 |
| Clibeanna: |
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