title: [Familial defect of apo B-100 in subjects with clinically diagnosed primary hypercholesterolemia: identification of the first family with this disorder in Spain].
abstract: BACKGROUND
  The aim of our study was to screen mutations responsible of FDB in subjects with primary hypercholesterolemia.
  
  
  METHODS
  We have screened R3500Q and other mutations (PCR-SSCP analysis) in 110 subjects with primary hypercholesterolemia from the Valencia area (Spain), 95 of them with familial hypercholesterolemia (FH) and 15 with poligenic hypercholesterolemia (PHC).
  
  
  RESULTS
  One out of 95 subjects carried the R3500Q mutation. We have searched in the family and have identified another affected subject.
  
  
  CONCLUSIONS
  We have identified the first affected Spanish family from FDB. The prevalence of R3500Q mutations was of 1% in FH subjects in this series.
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario, Universidad de Valencia.
authors.forename: J T
authors.initials: JT
authors.lastname: Real
authors.forename: J F
authors.initials: JF
authors.lastname: Chaves
authors.forename: J F
authors.initials: JF
authors.lastname: Ascaso
authors.forename: M E
authors.initials: ME
authors.lastname: Armengod
authors.forename: R
authors.initials: R
authors.lastname: Carmena
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013030:Spain
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B
vernacular_title: Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clínico de hipercolesterolemia primaria: identificación de la primera familia afectada en España.