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Article

Gene diagnosis of oculopharyngeal muscular dystrophy in a Chinese family by a GeneScan method.

Journal of clinical laboratory analysis - 1 Jan 2010

You Pan, Ma Qilin, Tao Tao

Abstract excerpt

This study aims to perform gene diagnosis for Chinese family patients with Oculopharyngeal muscular dystrophy (OPMD). Genomic DNAs were extracted from the pedigrees' members. Gene diagnosis was performed for these pedigrees' members by approaches, such as DNA sequencing and GeneScan. Sequence analysis and PABPN1 genotyping showed that the mutated allele in affected members of this family has nine trinucleotide...

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Source

Open in PubMed Open full text

Identifiers

PMID: 21089175
DOI: 10.1002/jcla.20423
PMCID: PMC6647617

Genes

GCG
PABPN1

Provenance

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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