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DNA DIAGNOSTICS AND MUTATION SPECTRUM OF THE GENE FBN1 IN MARFAN’S SYNDROME

Aim. The development of an optimal protocol for diagnostic search for mutations with the use of the new generation sequencing technique (NGS) and evaluation of the mutation spectrum in Russian selection of the patients with Marfan syndrome.Material and methods. Totally 32 patients included with Marf...

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Main Authors: Yu. A. Rogozhina, V. A. Rumyantseva, A. A. Bukaeva, E. V. Zaklyazminskaya
Formato: Artigo
Idioma:Russo
Publicado em: «FIRMA «SILICEA» LLC 2015-10-01
Colecção:Российский кардиологический журнал
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Acesso em linha:https://russjcardiol.elpub.ru/jour/article/view/311
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