DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING

DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING

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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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Bibliographic Details
Main Authors: A. I. Yershova, N. V. Shcherbakova, A. A. Suvorova, E. Y. Hlebus, I. V. Sidonets, A. N. Meshkov, S. A. Boytsov
Format: Article
Language:English
Published: Stolichnaya Izdatelskaya Kompaniya 2015-09-01
Series:Racionalʹnaâ Farmakoterapiâ v Kardiologii
Subjects:
genetic diagnosis
family hypobetalipoproteinemia
exomic sequencing
mutation
Online Access:https://www.rpcardio.com/jour/article/view/210

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https://www.rpcardio.com/jour/article/view/210

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