TY  - JOUR
AU  - Lupo, Vincenzo
AU  - García-García, Francisco
AU  - Sancho, Paula
AU  - Tello, Cristina
AU  - García-Romero, Mar
AU  - Villarreal, Liliana
AU  - Alberti, Antonia
AU  - Sivera, Rafael
AU  - Dopazo, Joaquín
AU  - Pascual-Pascual, Samuel I
AU  - Márquez-Infante, Celedonio
AU  - Casasnovas, Carlos
AU  - Sevilla, Teresa
AU  - Espinós, Carmen
PY  - 2016
DO  - 10.1016/j.jmoldx.2015.10.005
UR  - http://hdl.handle.net/10668/9720
T2  - The Journal of molecular diagnostics : JMD
AB  - 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 genetics of which are poorly...
LA  - en
KW  - Case-Control Studies
KW  - Charcot-Marie-Tooth Disease
KW  - Female
KW  - HSP40 Heat-Shock Proteins
KW  - Haplotypes
KW  - Hereditary Sensory and Motor Neuropathy
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - Molecular Chaperones
KW  - Mutation
KW  - Reproducibility of Results
TI  - Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
TY  - research article
VL  - 18
ER  -