Article

Likelihood of a novel pathogenic LDLR mutant allele inherited preferentially within an Indian family with familial hypercholesterolemia

2024-03-13

Abstract excerpt

<h4>Background: </h4> & Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by increased levels of low-density lipoprotein cholesterol (LDL-C). LDL receptor ( LDLR ) gene mutations is the primary genetic cause thereby necessitating the screening of family members for early detection and management. We aim to report an Indian family with FH harboring a novel pathogenic nonsense...

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Literature Corpus work: 01f96ed6-d852-580b-a437-238f9d14f071
DOI: 10.21203/rs.3.rs-4024513/v1

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