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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Gourgas, Ophélie; Lemire, Gabrielle; Eaton, Alison L; Alshahrani, Sultanah; Duker, Angela L; Li, Jingjing; Carroll, Ricki S; Mackenzie, Stuart; Nikkel, Sarah M; Bober, Michael B; Boycott, Kym M; Murshed, Monzur.
Afiliação
  • Gourgas O; Department of Medicine, McGill University, Montreal, QC, Canada.
  • Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Eaton AL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Alshahrani S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Duker AL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Li J; University of Alberta, Edmonton, AB, Canada.
  • Carroll RS; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada.
  • Mackenzie S; Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Nikkel SM; Nemours Children's Health, Wilmington, DE, USA.
  • Bober MB; Nemours Children's Health, Wilmington, DE, USA.
  • Boycott KM; Nemours Children's Health, Wilmington, DE, USA.
  • Murshed M; University of British Columbia, Vancouver, BC, Canada.
Nat Commun ; 14(1): 7054, 2023 11 03.
Article em En | MEDLINE | ID: mdl-37923733
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Mucopolissacaridose IV Limite: Animals / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Mucopolissacaridose IV Limite: Animals / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido