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Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Unoki, Motoko; Velasco, Guillaume; Kori, Satomi; Arita, Kyohei; Daigaku, Yasukazu; Yeung, Wan Kin Au; Fujimoto, Akihiro; Ohashi, Hirofumi; Kubota, Takeo; Miyake, Kunio; Sasaki, Hiroyuki.
Affiliation
  • Unoki M; Division of Epigenomics and Development, Medical Institute of Bioregulation, University of Tokyo, Fukuoka 812-8582, Japan.
  • Velasco G; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan.
  • Kori S; Epigenetics and Cell Fate, Université Paris Cité, CNRS, Paris 75013, France.
  • Arita K; Structural Biology Laboratory, Graduate School of Medical Life Science, Yokohama City University, Kanagawa 230-0045, Japan.
  • Daigaku Y; Structural Biology Laboratory, Graduate School of Medical Life Science, Yokohama City University, Kanagawa 230-0045, Japan.
  • Yeung WKA; Cancer Genome Dynamics Project, The Cancer Institute of Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan.
  • Fujimoto A; Division of Epigenomics and Development, Medical Institute of Bioregulation, University of Tokyo, Fukuoka 812-8582, Japan.
  • Ohashi H; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan.
  • Kubota T; Division of Medical Genetics, Saitama Children's Medical Center, Saitama 330-8777, Japan.
  • Miyake K; Department of Child Studies, Faculty of Child Studies, Seitoku University, Chiba 271-8555, Japan.
  • Sasaki H; Department of Health Sciences, University of Yamanashi, Yamanashi 409-3898, Japan.
Hum Mol Genet ; 32(9): 1439-1456, 2023 04 20.
Article in En | MEDLINE | ID: mdl-36458887
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histones / Primary Immunodeficiency Diseases Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histones / Primary Immunodeficiency Diseases Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: