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Article

Gene SNPs and mutations in clinical genetic testing: haplotype-based testing and analysis.

Mutation research - 3 Jun 2005

Lee Jong-Eun, Choi Ji Ha, Lee Ji Hyun, Lee Min Goo

Abstract excerpt

Haplotype-based analysis using high-density single nucleotide polymorphism (SNP) markers have gained increasing attention in evaluating candidate genes in various clinical situations. For example, haplotype information is useful for predicting the severity and prognosis of certain genetic disorders. The intragenic cis-interactions between the common polymorphisms and the pathogenic mutations of prion protein...

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Identifiers

PMID: 15829248
DOI: 10.1016/j.mrfmmm.2004.08.018

Genes

CFTR
PRNP

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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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