Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

Lombardi, M P; Redeker, E J; Defesche, J C; Kamerling, S W; Trip, M D; Mannens, M M; Havekes, L M; Kastelein, J J

Lombardi, M P; Redeker, E J; Defesche, J C; Kamerling, S W; Trip, M D; Mannens, M M; Havekes, L M; Kastelein, J J.

Affiliation

Lombardi MP; Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands. m.p.lombardi@amc.uva.nl

Clin Genet ; 57(2): 116-24, 2000 Feb.

Article in En | MEDLINE | ID: mdl-10735632

Subject(s)

Hyperlipoproteinemia Type II/genetics; Mutation; Receptors, LDL/genetics; Child; DNA Mutational Analysis; Exons; Gene Deletion; Genetic Testing; Heterozygote; Humans; Introns; Mutation, Missense; Netherlands; RNA Splicing

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Collection: 01-internacional Database: MEDLINE Main subject: Receptors, LDL / Hyperlipoproteinemia Type II / Mutation Type of study: Risk_factors_studies Limits: Child / Humans Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2000 Document type: Article Affiliation country: Netherlands Country of publication: Denmark

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