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Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska, Anna; Kulecka, Maria; Litwin, Tomasz; Dziezyc, Karolina; Balabas, Aneta; Piatkowska, Magdalena; Paziewska, Agnieszka; Dabrowska, Michalina; Mikula, Michal; Kaminska, Diana; Wiernicka, Anna; Socha, Piotr; Czlonkowska, Anna; Ostrowski, Jerzy.
Afiliação
  • Kluska A; Department of Genetics, Cancer Center-Institute, Warsaw, Poland.
  • Kulecka M; Department of Gastroenterology and Hepatology, Centre of Postgraduate Medical Education, Warsaw, Poland.
  • Litwin T; Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Dziezyc K; Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Balabas A; Department of Genetics, Cancer Center-Institute, Warsaw, Poland.
  • Piatkowska M; Department of Genetics, Cancer Center-Institute, Warsaw, Poland.
  • Paziewska A; Department of Gastroenterology and Hepatology, Centre of Postgraduate Medical Education, Warsaw, Poland.
  • Dabrowska M; Department of Genetics, Cancer Center-Institute, Warsaw, Poland.
  • Mikula M; Department of Genetics, Cancer Center-Institute, Warsaw, Poland.
  • Kaminska D; Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Wiernicka A; Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Socha P; Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Czlonkowska A; Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Ostrowski J; Department of Genetics, Cancer Center-Institute, Warsaw, Poland.
Liver Int ; 39(1): 177-186, 2019 01.
Article em En | MEDLINE | ID: mdl-30230192
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPases Transportadoras de Cobre / Sequenciamento do Exoma / Degeneração Hepatolenticular / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Liver Int Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Polônia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPases Transportadoras de Cobre / Sequenciamento do Exoma / Degeneração Hepatolenticular / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Liver Int Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Polônia