Research
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, the FORGE Canada Consortium, John Mitchell, Constantin Polychronakos and Celia Rodd
CMAJ February 03, 2015 187 (2) E68-E73; DOI: https://doi.org/10.1503/cmaj.140840
Isabelle Rousseau-Nepton
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
MDMinoru Okubo
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
MD PhDRosemarie Grabs
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
BsCDepartment of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
John Mitchell
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
MDConstantin Polychronakos
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
MDCelia Rodd
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children’s Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children’s Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
MD MSc
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A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, the FORGE Canada Consortium, John Mitchell, Constantin Polychronakos, Celia Rodd
CMAJ Feb 2015, 187 (2) E68-E73; DOI: 10.1503/cmaj.140840
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, the FORGE Canada Consortium, John Mitchell, Constantin Polychronakos, Celia Rodd
CMAJ Feb 2015, 187 (2) E68-E73; DOI: 10.1503/cmaj.140840