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Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane Regulator Gene

Genotyping of genetic polymorphisms is widely used in clinical molecular laboratories to confirm or predict diseases due to single locus mutations. In contrast, very few molecular methods determine the phase or haplotype of two or more mutations that are kilobases apart. In this report, we describe...

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Bibliografiske detaljer
Main Authors: Pont-Kingdon, Genevieve, Jama, Mohamed, Miller, Christine, Millson, Alison, Lyon, Elaine
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Investigative Pathology 2004
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867631/
https://ncbi.nlm.nih.gov/pubmed/15269305
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