Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA) [1]

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 4, 2008, Pages 701-703

  Lee, S T ^a   Kim, Hee Jin ^a   Kim, D K ^a   Schuit, R J L ^b   Kim, S H ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b MRC HOLLAND   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBIN; PROTEIN SERPINC1; UNCLASSIFIED DRUG; WARFARIN;

ADULT; ANALYTIC METHOD; ANTITHROMBIN DEFICIENCY; BLOOD ANALYSIS; CASE REPORT; CHROMOSOME 1Q; CONTROLLED STUDY; DIAGNOSTIC VALUE; FAMILY HISTORY; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ANALYSIS; HUMAN; LETTER; LUNG EMBOLISM; MALE; MOLECULAR DYNAMICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; DNA MUTATIONAL ANALYSIS; EXONS; FALSE NEGATIVE REACTIONS; HUMANS; KOREA; MALE; MESENTERIC VEINS; MIDDLE AGED; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PULMONARY EMBOLISM; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 40949086763     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.02905.x     Document Type: Letter

References (9)

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