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Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.
Nakano, Tomohiro; Sasahara, Yoji; Kikuchi, Atsuo; Moriya, Kunihiko; Niizuma, Hidetaka; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Nakayama, Keiko; Aoki, Yoko; Kure, Shigeo.
Afiliação
  • Nakano T; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Sasahara Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan ysasahara@med.tohoku.ac.jp.
  • Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Moriya K; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Niizuma H; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Shirota M; Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
  • Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
J Med Genet ; 2022 May 09.
Article em En | MEDLINE | ID: mdl-35534205
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article