Article

Familial hypercholesterolaemia with cardiovascular disease：a case report

2021-09-25

Abstract excerpt

A 56-year-old female with definite FH was reported based on clinical algorithms. Whole exome sequencing identified a heterozygous LDLR mutation (c.1599G>A), which is pathogenic according to ACMG guidelines. Sanger sequencing was performed in family members, and the mutation site was co-segregated with the disease in the family.

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Literature Corpus work: bc186c58-9de7-5d0c-8fda-9a554e43c759
DOI: 10.22541/au.163253676.68368274/v1

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