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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genet Res (Camb)
Päätekijät: ZHURAYEV, RUSTAM, PROOST, DORIEN, ZERBINO, DMYTRO, FEDORENKO, VIKTOR, MEESTER, JOSEPHINA A. N., VAN LAER, LUT, LOEYS, BART L.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Cambridge University Press 2016
Aiheet:
Linkit: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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