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Article

Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Edelmann Lisa, Hashmi Ghazala, Song Yuhua, Han Yi, Kornreich Ruth, Desnick Robert J

Abstract excerpt

PURPOSE: To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H. METHODS: DNA from 519 individuals originally tested for CF mutation status by allele specific oligonucleotide hybridization (ASOH) were blindly analyzed by the BeadChip assay and the results were compared. The elongation mediated multiplexed analysis of...

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Identifiers

PMID: 15371909
DOI: 10.1097/01.gim.0000140836.66050.88

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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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