The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure, and has been implicated in the pathogenesis of neural tube defects (NTDs) in animal models and human cohorts. In this study, we analyzed the role of one core PCP gene
โฆ LIBER โฆ
Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations
โ Scribed by Jouan, Loubna; Gauthier, Julie; Dion, Patrick A.; Rouleau, Guy A.
- Book ID
- 120243389
- Publisher
- S. Karger AG
- Year
- 2012
- Tongue
- English
- Weight
- 117 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0001-5652
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Chronic granulomatous disease (CGD) is mainly caused by mutations in X-linked CYBB that encodes gp91. We have identified two novel mutations in CYBB resulting in the rare X91 + -CGD variant, c.1500T>G (p.Asp500Glu) in two male siblings and c.1463C>A (p.Ala488Asp) in an unrelated male. Zymosan and/or