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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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| Опубликовано в: : | Genet Res (Camb) |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Cambridge University Press
2016
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| Предметы: | |
| Online-ссылка: | 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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