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Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas; Merkler, Doron; Narasinga, Rao Kvl; Ribaux, Pascale; Blouin, Jean-Louis; Makrythanasis, Periklis; Seplyarskiy, Vladimir B; Antonarakis, Stylianos E; Nikolaev, Sergey I.
Afiliação
  • Andrianova MA; Institute of Information Transmission Problems, Moscow, Russia.
  • Chetan GK; Department of Human Genetics, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
  • Sibin MK; Department of Human Genetics, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
  • Mckee T; Service of Clinical Pathology, University Hospitals of Geneva, Geneva, Switzerland.
  • Merkler D; Department of Pathology and Immunology, Université de Genève (UNIGE), Geneva, Switzerland.
  • Narasinga RK; Department of Neuro-surgery, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
  • Ribaux P; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Blouin JL; Service of Genetic Medicine, Geneva University Hospitals (HUG), Geneva, Switzerland.
  • Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Seplyarskiy VB; Service of Genetic Medicine, Geneva University Hospitals (HUG), Geneva, Switzerland.
  • Antonarakis SE; Institute of Information Transmission Problems, Moscow, Russia.
  • Nikolaev SI; Moscow State University, Moscow, Russia.
J Pathol ; 243(3): 331-341, 2017 11.
Article em En | MEDLINE | ID: mdl-28805995
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Mutação em Linhagem Germinativa / Predisposição Genética para Doença / DNA Polimerase II / Reparo de Erro de Pareamento de DNA / Endonuclease PMS2 de Reparo de Erro de Pareamento Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Mutação em Linhagem Germinativa / Predisposição Genética para Doença / DNA Polimerase II / Reparo de Erro de Pareamento de DNA / Endonuclease PMS2 de Reparo de Erro de Pareamento Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article