Genetic Disorders
Clinical and Molecular Characterization of ALG1-CDG
Authors:
- Radhika DhamijaEmail Radhika Dhamija
- Chelsea Chambers
Abstract
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected individuals with ALG1-CDG from 32 families.- Page/Article: 14
- DOI: 10.15844/pedneurbriefs-30-2-5
- Submitted on 25 Mar 2016
- Accepted on 1 Apr 2016
- Published on 5 Apr 2016
- Peer Reviewed