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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Detalles Bibliográficos
Autores principales: Dhamija, Radhika, Chambers, Chelsea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2016
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836/
https://www.ncbi.nlm.nih.gov/pubmed/27053910
http://dx.doi.org/10.15844/pedneurbriefs-30-2-5
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author Dhamija, Radhika
Chambers, Chelsea
author_facet Dhamija, Radhika
Chambers, Chelsea
author_sort Dhamija, Radhika
collection PubMed
description 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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spelling pubmed-48218362016-04-06 Clinical and Molecular Characterization of ALG1-CDG Dhamija, Radhika Chambers, Chelsea Pediatr Neurol Briefs Genetic Disorders 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. Pediatric Neurology Briefs Publishers 2016-02 2016-04-05 /pmc/articles/PMC4821836/ /pubmed/27053910 http://dx.doi.org/10.15844/pedneurbriefs-30-2-5 Text en Copyright: © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Disorders
Dhamija, Radhika
Chambers, Chelsea
Clinical and Molecular Characterization of ALG1-CDG
title Clinical and Molecular Characterization of ALG1-CDG
title_full Clinical and Molecular Characterization of ALG1-CDG
title_fullStr Clinical and Molecular Characterization of ALG1-CDG
title_full_unstemmed Clinical and Molecular Characterization of ALG1-CDG
title_short Clinical and Molecular Characterization of ALG1-CDG
title_sort clinical and molecular characterization of alg1-cdg
topic Genetic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836/
https://www.ncbi.nlm.nih.gov/pubmed/27053910
http://dx.doi.org/10.15844/pedneurbriefs-30-2-5
work_keys_str_mv AT dhamijaradhika clinicalandmolecularcharacterizationofalg1cdg
AT chamberschelsea clinicalandmolecularcharacterizationofalg1cdg

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