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Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
Riise Stensland, Hilde Monica Frostad; Persichetti, Emanuele; Sorriso, Carmelita; Hansen, Gaute Martin; Bibi, Lucia; Paciotti, Silvia; Balducci, Chiara; Beccari, Tommaso.
Afiliación
  • Riise Stensland HMF; Department of Medical Genetics, University Hospital of Northern Norway, Tromsø, Norway.
  • Persichetti E; Department of Internal Medicine, University of Perugia, Perugia, Italy.
  • Sorriso C; Department of Internal Medicine, University of Perugia, Perugia, Italy.
  • Hansen GM; Department of Medical Biochemistry, University of Tromsø, Tromsø, Norway.
  • Bibi L; Department of Internal Medicine, University of Perugia, Perugia, Italy.
  • Paciotti S; Department of Internal Medicine, University of Perugia, Perugia, Italy.
  • Balducci C; Department of Internal Medicine, University of Perugia, Perugia, Italy.
  • Beccari T; Department of Internal Medicine, University of Perugia, Perugia, Italy.
Mol Genet Metab ; 94(4): 476-480, 2008 Aug.
Article en En | MEDLINE | ID: mdl-18565776
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mutación Missense / Beta-Manosidosis / Beta-Manosidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2008 Tipo del documento: Article País de afiliación: Noruega
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mutación Missense / Beta-Manosidosis / Beta-Manosidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2008 Tipo del documento: Article País de afiliación: Noruega