Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a uniform 1.5–Mb duplication on chromosome 17p, which includes the PMP22 gene. Patients often present the classic neuropathy phenotype, but also with high clinical variability. OBJECTIVE: We aimed to identify genetic variants that...

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Detalles Bibliográficos
Autores principales: Tao, Feifei, Beecham, Gary W., Rebelo, Adriana P., Blanton, Susan H., Moran, John J., Lopez-Anido, Camila, Svaren, John, Abreu, Lisa, Rizzo, Devon, Kirk, Callyn A., Wu, Xingyao, Feely, Shawna, Verhamme, Camiel, Saporta, Mario A., Herrmann, David N., Day, John W., Sumner, Charlotte J., Lloyd, Thomas E., Li, Jun, Yum, Sabrina W., Taroni, Franco, Baas, Frank, Choi, Byung-Ok, Pareyson, Davide, Scherer, Steven S., Reilly, Mary M., Shy, Michael E., Züchner, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597974/
https://www.ncbi.nlm.nih.gov/pubmed/30958311
http://dx.doi.org/10.3233/JND-190377

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