Clinical and Molecular Characterization of ALG1-CDG

Clinical and Molecular Characterization of ALG1-CDG

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 i...

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Bibliographic Details
Main Authors: Radhika Dhamija, Chelsea Chambers
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2016-04-01
Series:Pediatric Neurology Briefs
Subjects:
asparagine-linked glycosylation protein 1
cdg
carbohydrate-deficient transferrin
Online Access:https://www.pediatricneurologybriefs.com/articles/1687
Description
Summary: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.
ISSN:1043-3155
2166-6482

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