Clinical and Molecular Characterization of ALG1-CDG

Authors

Radhika Dhamija Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA
Chelsea Chambers Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA

DOI:

https://doi.org/10.15844/pedneurbriefs-30-2-5

Keywords:

Asparagine-Linked Glycosylation Protein 1, CDG, Carbohydrate-Deficient Transferrin

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.

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Published

2016-04-05

Issue

Vol 30, No 02 | Feb 2016

Section

Genetic Disorders

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