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KIF1A mutation in a patient with progressive neurodegeneration.
Okamoto, Nobuhiko; Miya, Fuyuki; Tsunoda, Tatsuhiko; Yanagihara, Keiko; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro.
Afiliación
  • Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Miya F; Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
  • Tsunoda T; Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
  • Yanagihara K; Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Yamasaki M; Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan.
  • Kanemura Y; 1] Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan [2] Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
J Hum Genet ; 59(11): 639-41, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25253658

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cinesinas / Enfermedades Neurodegenerativas / Predisposición Genética a la Enfermedad / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cinesinas / Enfermedades Neurodegenerativas / Predisposición Genética a la Enfermedad / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Japón