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...

Full description

Bibliographic Details
Main Authors: Ohad Shimshon Bentur, Barry S. Coller
Format: Article
Language:English
Published: Cambridge University Press 2019-03-01
Series:Journal of Clinical and Translational Science
Online Access:https://www.cambridge.org/core/product/identifier/S2059866119000578/type/journal_article