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A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Ono, Ryusuke; Masaki, Taro; Mayca Pozo, Franklin; Nakazawa, Yuka; Swagemakers, Sigrid M A; Nakano, Eiji; Sakai, Wataru; Takeuchi, Seiji; Kanda, Fumio; Ogi, Tomoo; van der Spek, Peter J; Sugasawa, Kaoru; Nishigori, Chikako.
Afiliación
  • Ono R; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Masaki T; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Mayca Pozo F; Biosignal Research Center, Organization of Advanced Science and Technology, Kobe University, Kobe, Japan.
  • Nakazawa Y; Nagasaki University Research Centre for Genomic Instability and Carcinogenesis, Nagasaki University, Nagasaki, Japan.
  • Swagemakers SM; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
  • Nakano E; Department of Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
  • Sakai W; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Takeuchi S; Biosignal Research Center, Organization of Advanced Science and Technology, Kobe University, Kobe, Japan.
  • Kanda F; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ogi T; Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
  • van der Spek PJ; Integrated Clinical Education Center, Kobe University Hospital, Kobe, Japan.
  • Sugasawa K; Nagasaki University Research Centre for Genomic Instability and Carcinogenesis, Nagasaki University, Nagasaki, Japan.
  • Nishigori C; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Photodermatol Photoimmunol Photomed ; 32(4): 174-80, 2016 Jul.
Article en En | MEDLINE | ID: mdl-26993158

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Xerodermia Pigmentosa / Genoma Humano / Proteína de la Xerodermia Pigmentosa del Grupo D / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Photodermatol Photoimmunol Photomed Asunto de la revista: ALERGIA E IMUNOLOGIA / DERMATOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Xerodermia Pigmentosa / Genoma Humano / Proteína de la Xerodermia Pigmentosa del Grupo D / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Photodermatol Photoimmunol Photomed Asunto de la revista: ALERGIA E IMUNOLOGIA / DERMATOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Japón