Phenotypic and genotypic diagnosis of von Willebrand disease
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Phenotypic and genotypic diagnosis of von Willebrand disease : a 2004 update. / Schneppenheim, Reinhard; Budde, Ulrich.
in: SEMIN HEMATOL, Jahrgang 42, Nr. 1, 01.2005, S. 15-28.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Phenotypic and genotypic diagnosis of von Willebrand disease
T2 - a 2004 update
AU - Schneppenheim, Reinhard
AU - Budde, Ulrich
PY - 2005/1
Y1 - 2005/1
N2 - In the last two decades, progress in the diagnosis of von Willebrand disease (VWD) came from the rapidly developing field of molecular techniques that allowed the first phenotype-genotype correlations. In particular, structural and functional defects of von Willebrand factor (VWF) that underlie VWD type 2 and their molecular basis not only helped to understand the pathophysiology of VWD but also the complex post-translation processing of VWF and the multiple VWF functions. In contrast to the dramatic development of molecular techniques, improvement of methods for phenotypic description, a prerequisite for phenotype-genotype comparisons, has been neglected. The gold standard to differentiate VWD type 2 from type 1 and between diverse type 2 subtypes is the electrophoretic analysis of VWF multimers, a demanding technique that itself is not easily standardized but of crucial relevance for correct classification. This article summarizes the current knowledge on phenotype-genotype correlations as well as up-to-date phenotypic and genotypic methods in the diagnosis of VWD.
AB - In the last two decades, progress in the diagnosis of von Willebrand disease (VWD) came from the rapidly developing field of molecular techniques that allowed the first phenotype-genotype correlations. In particular, structural and functional defects of von Willebrand factor (VWF) that underlie VWD type 2 and their molecular basis not only helped to understand the pathophysiology of VWD but also the complex post-translation processing of VWF and the multiple VWF functions. In contrast to the dramatic development of molecular techniques, improvement of methods for phenotypic description, a prerequisite for phenotype-genotype comparisons, has been neglected. The gold standard to differentiate VWD type 2 from type 1 and between diverse type 2 subtypes is the electrophoretic analysis of VWF multimers, a demanding technique that itself is not easily standardized but of crucial relevance for correct classification. This article summarizes the current knowledge on phenotype-genotype correlations as well as up-to-date phenotypic and genotypic methods in the diagnosis of VWD.
KW - Genotype
KW - Humans
KW - Molecular Diagnostic Techniques
KW - Phenotype
KW - von Willebrand Diseases
KW - von Willebrand Factor
M3 - SCORING: Journal article
C2 - 15662612
VL - 42
SP - 15
EP - 28
JO - SEMIN HEMATOL
JF - SEMIN HEMATOL
SN - 0037-1963
IS - 1
ER -