Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

Clinical Biochemistry

Volumn 42, Issue 9, 2009, Pages 899-903

  Alonso, Rodrigo ^a   Defesche, Joep C ^b   Tejedor, Diego ^c   Castillo, Sergio ^d   Stef, Marianne ^c   Mata, Nelva ^e   Gomez Enterria, Pilar ^f   Martinez Faedo, Ceferino ^f   Forga, Lluis ^g   Mata, Pedro ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c Progenika Biopharma SA   (Spain)

^d Lacer SA   (Spain)

^e Madrid Regional Health Affairs Authority   (Spain)

^f HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^g Universidad Pública de Navarra   (Spain)

Author keywords

DNA micro array; Familial hypercholesterolemia; Genetic screening; Low density lipoprotein receptor; Premature atherosclerosis

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CLINICAL ASSESSMENT; CLINICAL EFFECTIVENESS; CLINICAL TRIAL; DNA MICROARRAY; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HEALTH CARE COST; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION; PATIENT IDENTIFICATION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SPAIN; VALIDATION PROCESS;

DNA MUTATIONAL ANALYSIS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA;

EID: 67349261433     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.01.017     Document Type: Article

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