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Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis

A disparity between Caucasian and Hispanic mutation detection for cystic fibrosis continues to exist, although the carrier frequency is only moderately lower in Hispanics. We aimed to identify exonic rearrangements that remained undetected by conventional methods. In seven of 32 cystic fibrosis-affe...

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Detalhes bibliográficos
Main Authors: Schrijver, Iris, Rappahahn, Krista, Pique, Lynn, Kharrazi, Martin, Wong, Lee-Jun
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2438207/
https://ncbi.nlm.nih.gov/pubmed/18556774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2008.080004
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