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Article

An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2009

Rabacchi Claudio, Wunsch Alessia, Ghisellini Margherita, Marino Marco, Pisciotta Livia, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

BACKGROUND: Familial Hypercholesterolemia (FH), the most common form of autosomal co-dominant hypercholesterolemia, is due to mutations in the LDLR gene, mostly minute or point mutations in the coding sequence. METHODS: Analysis of LDLR gene was performed by direct resequencing and multiplex ligation-dependent probe amplification (MLPA). RESULTS: LDLR gene resequencing showed that proband I.G., with the clinical...

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Source

Identifiers

PMID: 19467224
DOI: 10.1016/j.cca.2009.05.017

Genes

LDLR

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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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