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.
DOI: https://doi.org/10.15844/pedneurbriefs-30-2-5 | Journal eISSN: 2166-6482
Language: English
Page range: 14 - 14
Submitted on: Mar 25, 2016
Accepted on: Apr 1, 2016
Published on: Apr 5, 2016
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2016 Radhika Dhamija, Chelsea Chambers, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.