DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING

Clinical case study is described. Patient D, 55 years old, applied to the Lipid clinic of State Research Centre for Preventive Medicine because of low blood cholesterol level. Results of the differential diagnosis of the hypocholesterolemia syndrome by using exomic sequencing are presented. This met...

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Main Authors: A. I. Yershova, N. V. Shcherbakova, A. A. Suvorova, E. Y. Hlebus, I. V. Sidonets, A. N. Meshkov, S. A. Boytsov
Formato: Artigo
Idioma:Inglês
Publicado em: Stolichnaya Izdatelskaya Kompaniya 2015-09-01
Colecção:Racionalʹnaâ Farmakoterapiâ v Kardiologii
Assuntos:
genetic diagnosis
family hypobetalipoproteinemia
exomic sequencing
mutation
Acesso em linha:https://www.rpcardio.com/jour/article/view/210
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