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Listar por palabra clave "Hereditary motor neuropathy"

Mostrando ítems 1-1 de 1

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

Lupo, Vincenzo; García-García, Francisco; Sancho, Paula; Tello, Cristina; García-Romero, Mar; Villarreal, Liliana; Alberti, Antonia; Sivera, Rafael; Pascual-Pascual, Samuel I.; Márquez-Infante, Celedonio; Casasnovas, Carlos; Sevilla, Teresa; Espinós-Armero, Carmen Ángeles (Elsevier, 2016-03)

[EN] Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the ...

Mostrando ítems 1-1 de 1