Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene

Thrombosis and Haemostasis

Volumn 101, Issue 3, 2009, Pages 570-576

  Corrales, Irene ^a   Ramirez, Lorena ^a   Aitisent, Carme ^b   Parra, Rafael ^a,b   Vidal, Francisco ^a  

^a BANC DE SANG I TEIXITS   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Automated DNA sequencing; Molecular diagnosis; Mutation analysis; vonWillebrand disease; VonWillebrand factor

Indexed keywords

ARTICLE; AUTOANALYSIS; CHROMOSOME 22; CLINICAL ARTICLE; DNA SEQUENCE; GENE; GENE INSERTION; HUMAN; HUMAN TISSUE; INDEL MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROCESS OPTIMIZATION; PSEUDOGENE; VON WILLEBRAND DISEASE; VWF GENE;

EID: 62549143505     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-08-0500     Document Type: Article

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