Likelihood of a Novel Pathogenic LDLR Mutant Allele Inherited Preferentially within an Indian Family with Familial Hypercholesterolemia-Reference-Cited by-同舟云学术

Likelihood of a Novel Pathogenic LDLR Mutant Allele Inherited Preferentially within an Indian Family with Familial Hypercholesterolemia

Published:2024-07-25 Issue: Volume: Page:
ISSN:0970-1915
Container-title:Indian Journal of Clinical Biochemistry
language:en
Short-container-title:Ind J Clin Biochem

Author:

Reddy Lakshmi Lavanya,Shah Swarup A.V.^ORCID,Paradkar Minal,Ponde Chandrashekhar K.,Rajani Rajesh,Pillai Sudhir,Pradhan Dibyabhaba,Singh Harpreet,Ashavaid Tester F.

Funder

Indian Council of Medical Research

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12291-024-01252-6.pdf

Reference11 articles.

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2. Kumar P, Prasad SR, Anand A, Kumar R, Ghosh S. Prevalence of familial hypercholesterolemia in patients with confirmed premature coronary artery disease in Ranchi, Jharkhand. Egypt Heart J. 2022;74(1). https://doi.org/10.1186/s43044-022-00320-7.

3. Reddy LL, Shah SAV, Ashavaid TF. Shortcomings on genetic testing of familial hypercholesterolemia (FH) in India: can we collaborate to establish Indian FH Registry? Indian Heart J. 2022;74(1):1–6. https://doi.org/10.1016/j.ihj.2021.11.185.

4. Pillai KK, Shah SAV, Reddy LL, Ashavaid TF, Vishwanathan S. Targeted exome sequencing in south Indian patients with familial hypercholesterolemia. Clin Chim Acta. 2022;527:47–55. https://doi.org/10.1016/j.cca.2021.12.022.

5. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45):3478–90. https://doi.org/10.1093/eurheartj/eht273.