Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia [4]

Clinical Chemistry

Volumn 52, Issue 10, 2006, Pages 1971-1972

  Tejedor, Diego ^a   Castillo, Sergio ^b   Mozas, Pilar ^c   Jiménez, Elisa ^a   Lopez, Monica ^a   Tejedor, M Teresa ^c   Artieda, Marta ^a   Alonso, Rodrigo ^d   Mata, Pedro ^d   Simón, Laureano ^a   Martínez, Antonio ^a   Pocoví, Miguel ^c  

^a Progenika Biopharma SA   (Spain)

^b Lacer SA   (Spain)

^c UNIVERSITY OF ZARAGOZA   (Spain)

^d Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

BIOMEDICAL TECHNOLOGY ASSESSMENT; DIAGNOSTIC ACCURACY; DNA MICROARRAY; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC POLYMORPHISM; HUMAN; INTERMETHOD COMPARISON; LETTER; RELIABILITY;

APOLIPOPROTEINS B; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 33749134423     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.073957     Document Type: Letter

References (6)

1. Blesa S, García-García AB, Martinez-Hervas S, Mansego ML, Gonzalez-Albert V, Ascaso JF, et al. Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations? Clin Chem 2006;52:1021-5.
2. Tejedor D, Castillo S, Mozas P, Jimenez E, Lopez M, Tejedor MT, et al. Reliable low density DNA-array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin Chem 2005;51: 1137-44.
3. Heath K, Day INM, Humphries SE. Universal primer quantitative fluorescent multiplex (UP-QFM) PCR: a method to detect major and minor rearrangements of the low-density lipoprotein receptor gene. J Med Genet 2000;37:272-80.
4. Fouchier SW, Kastelein JJP, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in the Netherlands. Hum Mutat 2005;26:550-6.
5. Familial Hypercholesterolemia. Report of a second WHO consultation, Geneva, 1998.
6. Civeira, F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004;173:55-68.