Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.

ABSTRACT:

Background

The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to evaluate the spectrum of IPDs in individuals with clinical suspicion of these disorders, and to provide a diagnostic tool to centers not having access to specific platelets studies, we established the project "Functional and Molecular Characterization of Patients with Inherited Platelet Disorders" under the scientific sponsorship of the Spanish Society of Thrombosis and Haemostasis.

Patients/methods

Subjects were patients from a prospective cohort of individuals referred for clinical suspicion of IPDs as well as healthy controls. Functional studies included light transmiss

SUBMITTER: Sanchez-Guiu I 

PROVIDER: S-EPMC4302577 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature