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Article

tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.

Genomics - 1 Apr 2007

Guzauskas Gregory F, Ukadike Kennedy, Rimsky Lynn, Srivastava Anand K

Abstract excerpt

Identification of genes affected by disease-associated rare chromosomal rearrangements has led to the cloning of several disease genes. Here we have used a simple approach involving allele-specific RT-PCR-based detection of gene expression to identify a gene affected by a balanced autosome;autosome translocation. We identified a transcribed SNP (tSNP), c.68G-->A, present in a novel untranslated exon of the CLDN14...

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Source

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Identifiers

PMID: 17241765
DOI: 10.1016/j.ygeno.2006.12.006
PMCID: PMC1880898

Genes

CLDN14

Provenance

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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