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Article

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.

Biochemical and biophysical research communications - 22 Mar 2002

Shimozawa Nobuyuki, Nagase Tomoko, Takemoto Yasuhiko, Suzuki Yasuyuki, Fujiki Yukio, Wanders Ronald J A, Kondo Naomi

Abstract excerpt

Human Pex16p, a peroxisomal membrane protein composed of 336 amino acids, plays a central role in peroxisomal membrane biogenesis. A nonsense mutation (R176ter) in the PEX16 gene has been reported in the case of only one patient (D-01) belonging to complementation group D of the peroxisome biogenesis disorders. We have now identified two patients belonging to group D (D-02 and D-03) whose fibroblasts were found...

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Identifiers

PMID: 11890679
DOI: 10.1006/bbrc.2002.6642

Genes

PEX16

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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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A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.PMID 11890679Read ↗

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