Linked Life Data

16706266

Source:http://linkedlifedata.com/resource/pubmed/id/16706266

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2006-5-18
pubmed:abstractText
von Willebrand disease (vWD) is the most commonly diagnosed congenital bleeding disorder. The laboratory diagnosis of type 2 variants and type 3 vWD is reasonably well defined, and characterization of the von Willebrand factor (vWF) gene has facilitated definition of their molecular basis. However, for type 1 vWD, the laboratory diagnosis poses a diagnostic dilemma, and knowledge of its molecular basis is evolving. Characterization of the vWF gene and refinement of genetic techniques have led to an evolving repertoire of genetic tests. Genetic testing is costly, and thus judicious use will be increasingly important for appropriate genetic-counseling of patients with vWD and their family members. This article provides a practical approach to utilization of genetic testing in vWD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0025-6196
pubmed:author
pubmed:issnType
Print
pubmed:volume
81
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
679-91
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
A practical approach to genetic testing for von Willebrand disease.
pubmed:affiliation
Department of Internal Medicine and Division of Hematology, Special Coagulation DNA Diagnostic Laboratory, Comprehensive Hemophilia Center, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. pruthi.rajiv@mayo.edu
pubmed:publicationType
Journal Article, Review