Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Bountouvi, Evangelia; Papadopoulou, Anna; Vanier, Marie T; Nyktari, Georgia; Kanellakis, Spyridon; Michelakakis, Helen; Dinopoulos, Argyrios

Bountouvi, Evangelia; Papadopoulou, Anna; Vanier, Marie T; Nyktari, Georgia; Kanellakis, Spyridon; Michelakakis, Helen; Dinopoulos, Argyrios.

Afiliación

Bountouvi E; Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", 1 Rimini Str, 12464 -Haidari, Athens, Greece.
Papadopoulou A; Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", 1 Rimini Str, 12464 -Haidari, Athens, Greece. anpapado@med.uoa.gr.
Vanier MT; Laboratoire Gillet-Mérieux, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.
Nyktari G; Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", 1 Rimini Str, 12464 -Haidari, Athens, Greece.
Kanellakis S; Department of Nutrition and Dietetics, Harokopio University, Kallithea, Athens, Greece.
Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
Dinopoulos A; Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", 1 Rimini Str, 12464 -Haidari, Athens, Greece.

BMC Med Genet ; 18(1): 51, 2017 05 04.

Article en En | MEDLINE | ID: mdl-28472934

Asunto(s)

Proteínas Portadoras/genética; Glicoproteínas de Membrana/genética; Mutación; Enfermedad de Niemann-Pick Tipo C/genética; Niño; Preescolar; Femenino; Efecto Fundador; Grecia; Humanos; Péptidos y Proteínas de Señalización Intracelular; Masculino; Proteína Niemann-Pick C1; Linaje

Palabras clave

Haplotype; Kindred; Miglustat; Mutation; Niemann-Pick type C disease (NPC); Polymorphisms; Therapy

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Proteínas Portadoras / Enfermedad de Niemann-Pick Tipo C / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Grecia

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google