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First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
Vives-Corrons, Joan-Lluis; Koralkova, Pavla; Grau, Josep M; Mañú Pereira, Maria Del Mar; Van Wijk, Richard.
Afiliação
  • Vives-Corrons JL; Red Cell Pathology Unit, Biomedical Dianostic Centre, University Hospital Clínic de Barcelona Barcelona, Spain.
  • Koralkova P; Faculty of Medicine and Dentistry, Department of Biology, Palacky University Olomouc, Czech Republic.
  • Grau JM; Service of Internal Medicine and Muscle, University Hospital Clínic de Barcelona Barcelona, Spain.
  • Mañú Pereira Mdel M; Red Cell Pathology Unit, Biomedical Dianostic Centre, University Hospital Clínic de Barcelona Barcelona, Spain.
  • Van Wijk R; Department of Clinical Chemistry and Haematology, University Medical Center Utrecht Utrecht, Netherlands.
Front Physiol ; 4: 393, 2013.
Article em En | MEDLINE | ID: mdl-24427140
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Espanha