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Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
Masunaga, Yohei; Kagami, Masayo; Kato, Fumiko; Usui, Takeshi; Yonemoto, Takako; Mishima, Kazuo; Fukami, Maki; Aoto, Kazushi; Saitsu, Hirotomo; Ogata, Tsutomu.
Afiliación
  • Masunaga Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kato F; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Usui T; Department of Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan.
  • Yonemoto T; Department of Diabetes and Endocrinology, Shizuoka General Hospital, Shizuoka, Japan.
  • Mishima K; Department of Psychiatry Section of Neuro and Locomoter Science, Akita University School of Medicine, Akita, Japan.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp.
Clin Epigenetics ; 13(1): 73, 2021 04 07.
Article en En | MEDLINE | ID: mdl-33827678
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Partenogénesis / Predisposición Genética a la Enfermedad / Pueblo Asiatico / Proteínas Circadianas Period / Cuerpos Polares / Trastornos de Somnolencia Excesiva / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Clin Epigenetics Año: 2021 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Partenogénesis / Predisposición Genética a la Enfermedad / Pueblo Asiatico / Proteínas Circadianas Period / Cuerpos Polares / Trastornos de Somnolencia Excesiva / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Clin Epigenetics Año: 2021 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Alemania