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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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Uloženo v:
Hlavní autoři: Tommaso Fasano, Letizia Bocchi, Livia Pisciotta, Stefano Bertolini, Sebastiano Calandra
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2005-04-01
Edice:Journal of Lipid Research
Témata:
high density lipoprotein
ATP binding cassette transporter A1
heteroduplexes
sequence variants
primary hypoalphalipoproteinemia
On-line přístup:http://www.sciencedirect.com/science/article/pii/S0022227520340177
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