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Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Brookes, Emily; Laurent, Benoit; Õunap, Katrin; Carroll, Renee; Moeschler, John B; Field, Michael; Schwartz, Charles E; Gecz, Jozef; Shi, Yang.
Affiliation
  • Brookes E; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA.
  • Laurent B; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA.
  • Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia, Department of Pediatrics, University of Tartu, Tartu, Estonia.
  • Carroll R; School of Paediatrics and Reproductive Health and Robinson Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Lebanon, NH 03756, USA.
  • Field M; GOLD NSW, Hunter Genetics, Newcastle, Australia and.
  • Schwartz CE; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Gecz J; School of Paediatrics and Reproductive Health and Robinson Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Shi Y; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA, yshi@hms.harvard.edu.
Hum Mol Genet ; 24(10): 2861-72, 2015 May 15.
Article in En | MEDLINE | ID: mdl-25666439
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone Demethylases / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Infant / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone Demethylases / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Infant / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Country of publication: