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Article

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

American journal of human genetics - 7 Dec 2017

Falkenberg Kim D, Braverman Nancy E, Moser Ann B, Steinberg Steven J, Klouwer Femke C C, Schlüter Agatha, Ruiz Montserrat, Pujol Aurora, Engvall Martin, Naess Karin, van Spronsen FrancJan, Körver-Keularts Irene, Rubio-Gozalbo M Estela, Ferdinandusse Sacha, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

Zellweger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects in peroxisome biogenesis due to bi-allelic mutations in any of 13 different PEX genes. Here, we identified seven unrelated individuals affected with an apparent dominant ZSD in whom a heterozygous mutant PEX6 allele (c.2578C>T [p.Arg860Trp]) was overrepresented due to allelic expression imbalance (AEI). We...

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Identifiers

PMID: 29220678
DOI: 10.1016/j.ajhg.2017.11.007
PMCID: PMC5812895

Genes

PEX6

Variants

Provenance

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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