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Article

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22.

Clinical genetics - 1 May 2011

Cenarro A, García-Otín A-L, Tejedor M T, Solanas M, Jarauta E, Junquera C, Ros E, Mozas P, Puzo J, Pocoví M, Civeira F

Abstract excerpt

Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected...

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Source

Identifiers

PMID: 20629670
DOI: 10.1111/j.1399-0004.2010.01485.x

Genes

APOB
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20629670-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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