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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 en:Genet Res (Camb)
Autores principales: ZHURAYEV, RUSTAM, PROOST, DORIEN, ZERBINO, DMYTRO, FEDORENKO, VIKTOR, MEESTER, JOSEPHINA A. N., VAN LAER, LUT, LOEYS, BART L.
Formato: Artigo
Lenguaje:Inglês
Publicado: Cambridge University Press 2016
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Acceso en línea: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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