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Dhamija R, Chambers C. Clinical and Molecular Characterization of ALG1-CDG. Pediatr Neurol Briefs. 2016;30(2):14doi: 10.15844/pedneurbriefs-30-2-5.
Dhamija, R., & Chambers, C. (2016). Clinical and Molecular Characterization of ALG1-CDG. Pediatric neurology briefs, 30(2), 14. https://doi.org/10.15844/pedneurbriefs-30-2-5
Dhamija, Radhika, and Chambers, Chelsea. "Clinical and Molecular Characterization of ALG1-CDG." Pediatric neurology briefs vol. 30,2 (2016): 14. doi: https://doi.org/10.15844/pedneurbriefs-30-2-5
Dhamija R, Chambers C. Clinical and Molecular Characterization of ALG1-CDG. Pediatr Neurol Briefs. 2016 Feb;30(2):14. doi: 10.15844/pedneurbriefs-30-2-5. PMID: 27053910; PMCID: PMC4821836.
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Pediatr Neurol Briefs. 2016 Feb;30(2):14. doi: 10.15844/pedneurbriefs-30-2-5.

Clinical and Molecular Characterization of ALG1-CDG.

Pediatric neurology briefs

Radhika Dhamija, Chelsea Chambers

Affiliations

  1. Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA.

PMID: 27053910 PMCID: PMC4821836 DOI: 10.15844/pedneurbriefs-30-2-5

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 1; CDG; Carbohydrate-Deficient Transferrin; Xeno-Tetrasaccharide

References

  1. Lancet Neurol. 2012 May;11(5):453-66 - PubMed
  2. Annu Rev Neurosci. 2015 Jul 8;38:105-25 - PubMed
  3. Hum Mutat. 2016 Jul;37(7):653-60 - PubMed

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