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Article

C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

Annals of clinical and laboratory science - 1 Jan 2013

Salamian Ahmad, Mohamadynejad Parisa, Ghaedi Kamran, Nejati Alireza Shoaraye, Shafeghati Yousef, Ahnak Mehdi Borhani, Nematollahi Marzieh, Karbalaie Khadijeh, Hadipour Fatemeh, Baharvand Hossein, Nasr-Esfahani Mohammad Hossein

Abstract excerpt

Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 is a peroxisomal biogenesis disorder with a genetic abnormality in PEX7 gene. In the present study, mutational analysis was performed on two Iranian RCDP patients with distinct clinical phonotype. Mutation detection was carried out by sequencing of RT-PCR product consisting the whole length of PEX7 cDNA. Sequence data revealed the same missense homozygous...

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Source

Identifiers

PMID: 23462609

Genes

PEX7

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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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