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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Podrobná bibliografie
Vydáno v:Genet Res (Camb)
Hlavní autoři: ZHURAYEV, RUSTAM, PROOST, DORIEN, ZERBINO, DMYTRO, FEDORENKO, VIKTOR, MEESTER, JOSEPHINA A. N., VAN LAER, LUT, LOEYS, BART L.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cambridge University Press 2016
Témata:
Research Papers
On-line přístup: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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