Familial hypercholesterolemia with molecular genetic confirmation in the Republic of Sakha (Yakutia)
https://doi.org/10.25789/YMJ.2022.80.09
Abstract
The article presents first clinical cases with results of the molecular genetic confirmation of low-density lipoprotein receptor gene mutation in patients of the Lipid Cabinet of SAI RS(Ya) "Republican Clinical Hospital No.3" with the diagnosis of "probable" familial hypercholesterolemia.
About the Authors
A. V. Pavlova
Republican clinical hospital No.3
Russian Federation
Russian Federation
Pavlova Anna Vladimirovna – cardiologist of Center for Predictive Medicine and Bioinformatics
A. S. Asekritova
Republican clinical hospital No.3;
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Asekritova Aleksandra Stepanovna – chief of Center for Predictive Medicine and Bioinformatics Republican clinical hospital No.3, PhD in medical sciences, associate professor of the Department of therapy, Institute of Medicine, M.K. Ammosov North-Eastern Federal University
E. S. Kylbanova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Kylbanova Elena Semenovna – MD, Professor, Head of the Department of therapy, Institute of Medicine
O. V. Tatarinova
Republican clinical hospital No.3
Russian Federation
Russian Federation
Tatarinova Olga Viktorovna – MD, chief physician
E. V. Shakhtschneider
FSBSI Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
Shakhtshneider Elena Vladimirovna – PhD in Medical Sciences, head of the Sector for the study of monogenic forms of common human diseases, FSBSI Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences; deputy Head of the branch for scientific work Research Institute of Therapy and Preventive Medicine- branch of FSBSI Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences
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Review
For citations:
Pavlova A.V., Asekritova A.S., Kylbanova E.S., Tatarinova O.V., Shakhtschneider E.V. Familial hypercholesterolemia with molecular genetic confirmation in the Republic of Sakha (Yakutia). Yakut Medical Journal. 2022;(4):33-36. https://doi.org/10.25789/YMJ.2022.80.09
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