Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B

Haemophilia

Volumn 14, Issue 5, 2008, Pages 1069-1075

  Kwon, M J ^a   Yoo, K Y ^b   Kim, Hee Jin ^a   Kim, S H ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Korea Hemophilia Foundation Clinic   (South Korea)

Author keywords

F9; Genotype phenotype correlations; Haemophilia B; Korea; MLPA; Multiplex ligation dependent probe amplification; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 9;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEMOPHILIA B; HUMAN; HUMAN CELL; KOREA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; EXONS; FACTOR IX; FEASIBILITY STUDIES; GENOTYPE; HEMOPHILIA B; HUMANS; MALE; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 51249103378     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01796.x     Document Type: Article

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