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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara, Elzbieta; Rokicki, Dariusz; Lazniewski, Michal; Mierzewska, Hanna; Jurkiewicz, Elzbieta; Bekiesinska-Figatowska, Monika; Piekutowska-Abramczuk, Dorota; Iwanicka-Pronicka, Katarzyna; Szymanska, Edyta; Stawinski, Piotr; Kosinska, Joanna; Pollak, Agnieszka; Pronicki, Maciej; Plewczynski, Dariusz; Ploski, Rafal; Pronicka, Ewa.
Afiliação
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. E.CIARA@IPCZD.PL.
  • Rokicki D; Department of Pediatrics Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. D.ROKICKI@IPCZD.PL.
  • Lazniewski M; Centre of New Technologies, University of Warsaw, Banacha 2c Street, 02-071, Warsaw, Poland.
  • Mierzewska H; Department of Physical Chemistry, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1, 02-097, Warsaw, Poland.
  • Jurkiewicz E; Department of Child Neurology, Institute of Mother and Child, Warsaw, Poland.
  • Bekiesinska-Figatowska M; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
  • Piekutowska-Abramczuk D; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.
  • Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Szymanska E; Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Warsaw, Poland.
  • Stawinski P; Department of Pediatrics Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Pollak A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Pronicki M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Plewczynski D; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Ploski R; Centre of New Technologies, University of Warsaw, Banacha 2c Street, 02-071, Warsaw, Poland.
  • Pronicka E; Department of Physical Chemistry, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1, 02-097, Warsaw, Poland.
J Hum Genet ; 63(4): 473-485, 2018 Apr.
Article em En | MEDLINE | ID: mdl-29410512
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Mitocondriais / Alelos / Estudos de Associação Genética / Aminoacil-tRNA Sintetases / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Mitocondriais / Alelos / Estudos de Associação Genética / Aminoacil-tRNA Sintetases / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia