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Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Buijsen, R A M; Visser, J A; Kramer, P; Severijnen, E A W F M; Gearing, M; Charlet-Berguerand, N; Sherman, S L; Berman, R F; Willemsen, R; Hukema, R K.
Afiliação
  • Buijsen RA; Department of Clinical Genetics, Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands.
  • Visser JA; Department of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands.
  • Kramer P; Department of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands.
  • Severijnen EA; Department of Clinical Genetics, Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands.
  • Gearing M; Department of Pathology, Emory University School of Medicine, Atlanta, GA, USA.
  • Charlet-Berguerand N; Department of Neurobiology and Genetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.
  • Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Berman RF; Department of Neurological Surgery, UC Davis, Davis 95618, CA, USA.
  • Willemsen R; Department of Clinical Genetics, Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands.
  • Hukema RK; Department of Clinical Genetics, Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands r.hukema@erasmusmc.nl.
Hum Reprod ; 31(1): 158-68, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26537920
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Tremor / Insuficiência Ovariana Primária / Expansão das Repetições de Trinucleotídeos / Corpos de Inclusão Intranuclear / Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Tremor / Insuficiência Ovariana Primária / Expansão das Repetições de Trinucleotídeos / Corpos de Inclusão Intranuclear / Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article