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Article

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Human mutation - 1 Oct 2002

Braverman Nancy, Chen Li, Lin Paul, Obie Cassandra, Steel Gary, Douglas Pamela, Chakraborty Pranesh K, Clarke Joe T R, Boneh Avihu, Moser Ann, Moser Hugo, Valle David

Abstract excerpt

PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. In previous work we described three novel PEX7 mutant alleles, including one, L292X, with a high frequency due to a founder effect. We have now extended...

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Identifiers

PMID: 12325024
DOI: 10.1002/humu.10124

Genes

PEX7

Variants

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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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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.PMID 12325024Read ↗

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