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Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency

Mutations in the ABCA1 gene are the cause of familial high density lipoprotein deficiency (FHD). Because these mutations are spread over the entire gene, their detection requires the sequencing of all 50 exons. The aim of this study was to validate denaturing high-performance liquid chromatography (...

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Principais autores: Tommaso Fasano, Letizia Bocchi, Livia Pisciotta, Stefano Bertolini, Sebastiano Calandra
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2005-04-01
Serier:Journal of Lipid Research
Fag:
high density lipoprotein
ATP binding cassette transporter A1
heteroduplexes
sequence variants
primary hypoalphalipoproteinemia
Online adgang:http://www.sciencedirect.com/science/article/pii/S0022227520340177
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