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Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype — Hémophilie B  

Hemophilia B Clinical Trial

Official title:
Discrepancy Between Factor IX Level and Bleeding Phenotype

Clinical Trial Summary

It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter. The goal of this study is to compile bleeding phenotype in patients with this specific mutation to prove the clinico-biological discordance in order to improve patient care and follow-up.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT03946384
Study type Observational
Source Centre Hospitalier Universitaire Dijon
Contact Julien BOVET
Phone 3.80.29.33.14
Email julien.bovet@chu-dijon.fr
Status Not yet recruiting
Phase
Start date June 2019
Completion date October 2019
View Details
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