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Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Kozina, Anastasiya Aleksandrovna; Baryshnikova, Natalia Vladimirovna; Ilinskaya, Anna Yurievna; Kim, Anna Alexandrovna; Plotnikov, Nikolay Alekseevich; Pogodina, Nadezhda Andreevna; Surkova, Ekaterina Ivanovna; Shatalov, Peter Alekseevich; Ilinsky, Valery Vladimirovich.
Afiliação
  • Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.
  • Baryshnikova NV; Department of Clinical Laboratory Diagnostics, Pirogov Russian National Research Medical University, Moscow, Russia.
  • Ilinskaya AY; Department of Clinical Laboratory Diagnostics, Pirogov Russian National Research Medical University, Moscow, Russia.
  • Kim AA; Department of Science, Genotek Limited, Moscow, Russia.
  • Plotnikov NA; Department of Science, Genotek Limited, Moscow, Russia.
  • Pogodina NA; Department of Science, Genotek Limited, Moscow, Russia.
  • Surkova EI; Department of Science, Genotek Limited, Moscow, Russia.
  • Shatalov PA; Department of Science, Genotek Limited, Moscow, Russia.
  • Ilinsky VV; Department of Science, Genotek Limited, Moscow, Russia.
J Int Med Res ; 50(12): 3000605221139718, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36567457

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Idioma: En Ano de publicação: 2022 Tipo de documento: Article