Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy.

Shchagina, Olga; Orlova, Mariya; Murtazina, Aisylu; Filatova, Alexandra; Skoblov, Mikhail; Dadali, Elena

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.

Shchagina, Olga; Orlova, Mariya; Murtazina, Aisylu; Filatova, Alexandra; Skoblov, Mikhail; Dadali, Elena.

Afiliação

Shchagina O; Research Centre for Medical Genetics, Moscow 115522, Russia.
Orlova M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Murtazina A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Filatova A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Skoblov M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia.

Int J Mol Sci ; 24(12)2023 Jun 06.

Article em En | MEDLINE | ID: mdl-37372933

Assuntos

Doença de Charcot-Marie-Tooth; Humanos; Virulência; Doença de Charcot-Marie-Tooth/genética; Doença de Charcot-Marie-Tooth/patologia; Mutação da Fase de Leitura; Códon sem Sentido; Mutação; Peptídeos e Proteínas de Sinalização Intracelular/genética; Proteína P0 da Mielina/genética

Palavras-chave

CMT; HMSN; MPZ; SH3TC2; gene panel; minigene assay; splicing variants

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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