3409 The Power of Phenotypic Extremes in Detecting Novel Genetic Modifiers of Hemophilia

OBJECTIVES/SPECIFIC AIMS: 1. To identify novel genetic modifiers that result in a mild bleeding phenotype in patients with FVIII <1%. 2. To examine the feasibility of a practice model that incorporates the principles and methods for both obtaining consent for NGS and returning individual research...

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Bibliographic Details
Published in:J Clin Transl Sci
Main Authors: Bentur, Ohad Shimshon, Coller, Barry S.
Format: Artigo
Language:Inglês
Published: Cambridge University Press 2019
Subjects:
Basic/Translational Science/Team Science
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6799267/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2019.57
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