A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

Bibliographic Details
Published in:Canadian Medical Association Journal
Main Authors: Rousseau-Nepton, Isabelle, Okubo, Minoru, Grabs, Rosemarie, Mitchell, John, Polychronakos, Constantin, Rodd, Celia
Format: Text
Language:English
Published: Canadian Medical Association 2015
Subjects:
Research
inuit
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312169
http://www.ncbi.nlm.nih.gov/pubmed/25602008
https://doi.org/10.1503/cmaj.140840
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spelling ftpubmed:oai:pubmedcentral.nih.gov:4312169 2023-05-15T16:54:35+02:00 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series Rousseau-Nepton, Isabelle Okubo, Minoru Grabs, Rosemarie Mitchell, John Polychronakos, Constantin Rodd, Celia 2015-02-03 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312169 http://www.ncbi.nlm.nih.gov/pubmed/25602008 https://doi.org/10.1503/cmaj.140840 en eng Canadian Medical Association http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/25602008 http://dx.doi.org/10.1503/cmaj.140840 © 1995-2015, Canadian Medical Association Research Text 2015 ftpubmed https://doi.org/10.1503/cmaj.140840 2015-03-01T00:55:19Z Text inuit PubMed Central (PMC) Canadian Medical Association Journal 187 2 E68 E73
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Research
spellingShingle Research
Rousseau-Nepton, Isabelle
Okubo, Minoru
Grabs, Rosemarie
Mitchell, John
Polychronakos, Constantin
Rodd, Celia
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
topic_facet Research
format Text
author Rousseau-Nepton, Isabelle
Okubo, Minoru
Grabs, Rosemarie
Mitchell, John
Polychronakos, Constantin
Rodd, Celia
author_facet Rousseau-Nepton, Isabelle
Okubo, Minoru
Grabs, Rosemarie
Mitchell, John
Polychronakos, Constantin
Rodd, Celia
author_sort Rousseau-Nepton, Isabelle
title A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
title_short A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
title_full A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
title_fullStr A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
title_full_unstemmed A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
title_sort founder agl mutation causing glycogen storage disease type iiia in inuit identified through whole-exome sequencing: a case series
publisher Canadian Medical Association
publishDate 2015
url http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312169
http://www.ncbi.nlm.nih.gov/pubmed/25602008
https://doi.org/10.1503/cmaj.140840
genre inuit
genre_facet inuit
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC
http://www.ncbi.nlm.nih.gov/pubmed/25602008
http://dx.doi.org/10.1503/cmaj.140840
op_rights © 1995-2015, Canadian Medical Association
op_doi https://doi.org/10.1503/cmaj.140840
container_title Canadian Medical Association Journal
container_volume 187
container_issue 2
container_start_page E68
op_container_end_page E73
_version_ 1766045268432650240

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