First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers

British Journal of Haematology

Volumn 152, Issue 2, 2011, Pages 240-242

  Cabrera, Noelia ^a   Casaña, Pilar ^a   Cid, Ana Rosa ^a   Moret, Andrés ^a   Moreno, Manuel ^b   Palomo, Ángeles ^c   Aznar, José Antonio ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^c HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

Author keywords

Deletion; Multiple ligation dependent probe amplification; Type 3 von Willebrand disease; Von Willebrand factor

Indexed keywords

DNA; VON WILLEBRAND FACTOR;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; GENE AMPLIFICATION; GENE DELETION; GENETIC COUNSELING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MOLECULAR CLONING; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

FEMALE; GENE DELETION; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 78650409208     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08400.x     Document Type: Article

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