Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

Taylor, A; Tabrah, S; Wang, D; Sozen, M; Duxbury, N; Whittall, R; Humphries, S E; Norbury, G

Taylor, A; Tabrah, S; Wang, D; Sozen, M; Duxbury, N; Whittall, R; Humphries, S E; Norbury, G.

Affiliation

Taylor A; Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.

Clin Genet ; 71(6): 561-8, 2007 Jun.

Article in En | MEDLINE | ID: mdl-17539906

Subject(s)

Genetic Testing/methods; Hyperlipoproteinemia Type II/diagnosis; Hyperlipoproteinemia Type II/genetics; Mutation; Adolescent; Adult; Apolipoproteins B/genetics; Child; Chromatography, High Pressure Liquid/methods; DNA Mutational Analysis; Female; Gene Frequency; Humans; Male; Middle Aged; Polymorphism, Single-Stranded Conformational; Proprotein Convertase 9; Proprotein Convertases; Receptors, LDL/genetics; Reproducibility of Results; Sensitivity and Specificity; Serine Endopeptidases/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Hyperlipoproteinemia Type II / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2007 Document type: Article

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