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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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Detaylı Bibliyografya
Yayımlandı:Genet Res (Camb)
Asıl Yazarlar: ZHURAYEV, RUSTAM, PROOST, DORIEN, ZERBINO, DMYTRO, FEDORENKO, VIKTOR, MEESTER, JOSEPHINA A. N., VAN LAER, LUT, LOEYS, BART L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cambridge University Press 2016
Konular:
Online Erişim: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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