Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

Autosomal dominant (AD) familial hypercholesterolemia [FH; Mendelian Inheritance in Man (MIM) 143890] typically results from mutations in the LDL receptor gene (LDLR), which are now commonly diagnosed using exon-by-exon screening methods, such as exon-by-exon sequence analysis (EBESA) of genomic DNA...

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Váldodahkkit: Jian Wang, Matthew R. Ban, Robert A. Hegele
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: Elsevier 2005-02-01
Ráidu:Journal of Lipid Research
Fáttát:
atherosclerosis
genetics
monogenic disorders
DNA analysis
low density lipoprotein receptor gene
Liŋkkat:http://www.sciencedirect.com/science/article/pii/S0022227520340700

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http://www.sciencedirect.com/science/article/pii/S0022227520340700

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