Phenotype of heterozygous familial hypercholesterolemia caused by deletion of <i>LDLR</i> gene exons 2-10: a case report

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Phenotype of heterozygous familial hypercholesterolemia caused by deletion of <i>LDLR</i> gene exons 2-10: a case report

Introduction. Analysis and comparison of clinical and functional characteristics of patients with familial hypercholesterolemia (FH) with molecular genetics data make it possible to clarify the disease nature and determine the management strategy taking into account the clinical and genetic status....

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Main Authors:	A. M. Moiseeva, O. N. Ivanova, V. S. Emelyanchik, E. Yu. Emelyanchik, O. V. Marilovtseva, S. Yu. Nikulina, A. V. Protopopov
Format:	Article
Language:	Russian
Published:	«FIRMA «SILICEA» LLC 2024-12-01
Series:	Российский кардиологический журнал
Subjects:	familial heterozygous hypercholesterolemia cardiovascular risk cascade screening for dyslipidemia atherosclerosis coronary artery disease missense mutations deletions low-density lipoproteins.
Online Access:	https://russjcardiol.elpub.ru/jour/article/view/5927
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