Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics...

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Detalles Bibliográficos
Autores principales: Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532232/
https://www.ncbi.nlm.nih.gov/pubmed/28751717
http://dx.doi.org/10.1038/s41598-017-06894-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532232/
https://www.ncbi.nlm.nih.gov/pubmed/28751717
http://dx.doi.org/10.1038/s41598-017-06894-6

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