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SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Courage, Carolina; Jackson, Christopher B; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean-Marc; Gallati, Sabina; Schaller, André.
Afiliação
  • Courage C; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Jackson CB; Division of Inherited Metabolic Diseases, Institute of Clinical Chemistry, Inselspital, Bern, Switzerland.
  • Hahn D; Biomedicum Helsinki, Research Program for Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Euro L; Division of Inherited Metabolic Diseases, Institute of Clinical Chemistry, Inselspital, Bern, Switzerland.
  • Nuoffer JM; Biomedicum Helsinki, Research Program for Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Gallati S; Division of Inherited Metabolic Diseases, Institute of Clinical Chemistry, Inselspital, Bern, Switzerland.
  • Schaller A; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Am J Med Genet A ; 173(1): 225-230, 2017 Jan.
Article em En | MEDLINE | ID: mdl-27683074
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Succinato Desidrogenase / Anormalidades Múltiplas / Complexo II de Transporte de Elétrons / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Succinato Desidrogenase / Anormalidades Múltiplas / Complexo II de Transporte de Elétrons / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça