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Article

First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.

Journal of medical genetics - 1 May 2012

Thoms S, Gärtner Jutta

Abstract excerpt

Among the human PEX genes associated with peroxisome biogenesis disorders, only the PEX11 family genes had not previously been associated with human disease. A new study identifies the first patient with a mutation in PEX11β. The patient presents with symptoms atypical for peroxisome biogenesis disorders. Peroxisomes in cells derived from this patient appear enlarged and undivided, complying with the role of...

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Identifiers

PMID: 22581969
DOI: 10.1136/jmedgenet-2012-100899

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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