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Article

Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions.

Clinical chemistry - 1 Oct 2000

Ruiz-Ponte C, Loidi L, Vega A, Carracedo A, Barros F

Abstract excerpt

BACKGROUND: Current methods to determine gene dosage are time-consuming and labor-intensive. We describe a new and rapid method to assess gene copy number for identification of DNA duplications or deletions occurring in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively. METHODS: We studied 16 patients with HNPP, 4 with CMT1A, and 49...

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Source

Identifiers

PMID: 11017934

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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