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HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters, Paula J; Lace, Baiba; Buhas, Daniela; Gravel, Serge; Cyr, Denis; Boucher, Renée-Myriam; Bernard, Geneviève; Lévesque, Sébastien; Maranda, Bruno.
Afiliação
  • Waters PJ; Medical Genetics, Department of Pediatrics, Université de Sherbrooke-CHUS, Sherbrooke, QC, Canada.
  • Lace B; CRCHUS, Sherbrooke, QC, Canada.
  • Buhas D; Medical Genetics, Department of Pediatrics, CHU de Québec-Université Laval, Quebec, Canada.
  • Gravel S; Medical Genetics, Department of Specialized Medicine, MUHC, Montreal, Canada.
  • Cyr D; Department of Human Genetics, McGill University, Montreal, Canada.
  • Boucher RM; Medical Genetics, Department of Pediatrics, Université de Sherbrooke-CHUS, Sherbrooke, QC, Canada.
  • Bernard G; CRCHUS, Sherbrooke, QC, Canada.
  • Lévesque S; Medical Genetics, Department of Pediatrics, Université de Sherbrooke-CHUS, Sherbrooke, QC, Canada.
  • Maranda B; CRCHUS, Sherbrooke, QC, Canada.
Mol Genet Genomic Med ; 7(12): e1000, 2019 12.
Article em En | MEDLINE | ID: mdl-31654490
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: America do norte Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: America do norte Idioma: En Ano de publicação: 2019 Tipo de documento: Article