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Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients
Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequ...
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| Publicado no: | Genet Res (Camb) |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cambridge University Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6865158/ https://ncbi.nlm.nih.gov/pubmed/27724990 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672316000112 |
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