ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue 12, 2010, Pages 1713-1718

  Shammas, Christos ^a   Papasavva, Thessalia ^a   Felekis, Xenia ^a   Christophorou, Christos ^a   Roomere, Hanno ^b   Synodinos, Jan Traeger ^c   Kanavakis, Emmanuel ^c   El Khateeb, Mohammed ^d   Hamamy, Hanan ^d   Mahmoud, Tamara ^d   Shboul, Mohammad ^d   Beshlawy, Amal El ^e   Filon, Dvora ^f   Hussein, Ibtessam R ^g   Galanello, Renzo ^h   Romeo, Giovanni ⁱ   Kleanthous, Marina ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b Asper Biotech Ltd   (Estonia)

^c UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^d UNIVERSITY OF JORDAN   (Jordan)

^e CAIRO UNIVERSITY   (Egypt)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^g KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^h UNIVERSITY OF CAGLIARI   (Italy)

ⁱ European Genetic Foundation   (Italy)

Author keywords

arrayed primer extension technology; diagnostic test; microarrays; thalassaemia

Indexed keywords

BETA GLOBIN;

ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DNA FRAGMENTATION; DNA MICROARRAY; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MEDITERRANEAN SEA; MOLECULAR HYBRIDIZATION; MOLECULAR PROBE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDIZATION; THALASSOCHIP; VALIDATION PROCESS;

BETA-GLOBINS; BETA-THALASSEMIA; DNA PROBES; HEMOGLOBINOPATHIES; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSITIVITY AND SPECIFICITY;

EID: 78951476898     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.331     Document Type: Article

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