How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.

Stefanski, Katherine M; Li, Geoffrey C; Marinko, Justin T; Carter, Bruce D; Samuels, David C; Sanders, Charles R

Stefanski, Katherine M; Li, Geoffrey C; Marinko, Justin T; Carter, Bruce D; Samuels, David C; Sanders, Charles R.

Afiliação

Stefanski KM; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Center for Structural Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Li GC; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Center for Structural Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Marinko JT; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Center for Structural Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Carter BD; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Samuels DC; Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. Electronic address: david.c.samuels@vanderbilt.edu.
Sanders CR; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Center for Structural Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. Electronic

J Biol Chem ; 299(2): 102839, 2023 02.

Article em En | MEDLINE | ID: mdl-36581210

Assuntos

Doença de Charcot-Marie-Tooth; Proteínas da Mielina; Humanos; Doença de Charcot-Marie-Tooth/genética; Mutação de Sentido Incorreto; Proteínas da Mielina/genética; Predisposição Genética para Doença

Palavras-chave

CharcotMarieTooth disease; PMP22; carpal tunnel syndrome; hereditary neuropathy with pressure palsies; peripheral myelin protein 22; peripheral neuropathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Proteínas da Mielina Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Biol Chem Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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