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Article

Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.

The Journal of molecular diagnostics : JMD - 1 Feb 2006

Heaney Denise LaMarche, Flume Patrick, Hamilton Lauren, Lyon Elaine, Wolff Daynna J

Abstract excerpt

A 28-year-old Caucasian female with no personal or family history of cystic fibrosis (CF) presented for preconception counseling and screening. Cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis using the Inno-LiPa CFTR assay revealed lack of hybridization for both the wild-type and mutant oligonucleotides for 3120+1G>A. This region was sequenced, and an apparent homozygous 3120G>A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16436646
DOI: 10.2353/jmoldx.2006.050065
PMCID: PMC1867569

Genes

CFTR

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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