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Article

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal of lipid research - 1 Oct 2015

Sadananda Singh N, Foo Jia Nee, Toh Meng Tiak, Cermakova Lubomira, Trigueros-Motos Laia, Chan Teddy, Liany Herty, Collins Jennifer A, Gerami Sima, Singaraja Roshni R, Hayden Michael R, Francis Gordon A, Frohlich Jiri, Khor Chiea Chuen, Brunham Liam R

Abstract excerpt

A low level of HDL cholesterol (HDL-C) is a common clinical scenario and an important marker for increased cardiovascular risk. Many patients with very low or very high HDL-C have a rare mutation in one of several genes, but identification of the molecular abnormality in patients with extreme HDL-C is rarely performed in clinical practice. We investigated the accuracy and diagnostic yield of a targeted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26255038
DOI: 10.1194/jlr.P058891
PMCID: PMC4583092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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