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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio and María-Isabel Tejada*

BMC Medical Genetics 2012, 13:68  doi:10.1186/1471-2350-13-68

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