Molecular misdiagnosis in type 2B Von Willebrand disease [4]

American Journal of Hematology

Volumn 81, Issue 10, 2006, Pages 805-806

  Schmitt, Sebastien ^a   Trossaert, Marc ^a   Åiraud, Fabrice ^a   Landeau Trottier, Gaelle ^a   Talarmain, Patricia ^a   Boisseau, Pierre ^a   Fressinaud, Edith ^a   Bezieau, Stephane ^a  

^a HÔTEL DIEU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE; PRIMER DNA;

CLINICAL ARTICLE; DIAGNOSTIC ERROR; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VON WILLEBRAND DISEASE;

DIAGNOSTIC ERRORS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; VON WILLEBRAND DISEASE;

EID: 33749555530     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20661     Document Type: Letter

References (5)

1. Sadler JE, Ginsburg D. A database of polymorphisms in the von Willebrand factor gene and pseudogene. Thromb Haemost 1993;69:185-191.
2. Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 1991;30(1):253-269.
3. Randi AM, Rabinowitz I, Mancuso DJ, et al. Molecular basis of von Wiliebrand disease type IIB. J Clin Invest 1991;87:1220-1226.
4. Eikenboom JC, Reitsma PH, Briet E. Seeming homozygosity in type-IIB von Wiliebrand's disease due to a polymorphism within the sequence of a commonly used primer. Ann Hematol 1994;68(3):139-141.
5. Hagiwara T, Inaba H, Yoshida S, et al. A novel mutation Gly 1672→Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease. Thromb Haemost 1996;76(2):253-257.