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Article

Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.

Atherosclerosis - 1 Oct 2013

Faiz Fathimath, Allcock Richard J, Hooper Amanda J, van Bockxmeer Frank M

Abstract excerpt

OBJECTIVES: The aims of this study were to 1) compare LDLR variant detection between Ion Torrent Personal Genome Machine (PGM) sequencing and conventional methods used for familial hypercholesterolaemia (FH) diagnosis i.e. exon-by-exon sequence analysis and multiplex ligation-dependent probe ampl...

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 24075752
DOI: 10.1016/j.atherosclerosis.2013.07.050

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24075752-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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