Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene

Haemophilia

Volumn 15, Issue 6, 2009, Pages 1346-1348

  Acquila, M ^a   Bottini, F ^a   Di Duca, M ^a   Vijzelaar, R ^b   Molinari, A C ^a   Bicocchi, M P ^a  

^a G GASLINI INSTITUTE   (Italy)

^b MRC HOLLAND   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; CYTOSINE; DNA; RISTOCETIN; THYMINE; VON WILLEBRAND FACTOR;

BLEEDING; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DNA EXTRACTION; DNA POLYMORPHISM; EPISTASIS; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GINGIVA BLEEDING; HUMAN; LETTER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECURRENT DISEASE; SEQUENCE ANALYSIS; STOP CODON; VON WILLEBRAND DISEASE;

GENE DELETION; GENOTYPE; HUMANS; MOLECULAR PROBE TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; VON WILLEBRAND FACTOR;

EID: 70449597433     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.02078.x     Document Type: Letter

References (5)

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5. Acquila M, Pasino M, Di Duca M, Bottini F, Molinari AC, Bicocchi MP. MLPA assay in F8 gene mutation screening. Haemophilia 2008, 14:625-7.