Genetic Disorders

Clinical and Molecular Characterization of ALG1-CDG

Authors:

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.

Keywords:

Asparagine-Linked Glycosylation Protein 1CDGCarbohydrate-Deficient Transferrin
  • 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