Cribado genético para una sola mutación común de LRRK2 en la enfermedad de Parkinson familiar

William C Nichols1, Nathan Pankratz, Dena Hernandez

  • 1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Bill.nichols@cchmc.org

Lancet (London, England)
|February 1, 2005
PubMed
Resumen

Una mutación específica en el gen rico en leucina de la kinasa de repetición 2 (LRRK2) es responsable del 5% de los casos familiares de enfermedad de Parkinson. Se recomienda la detección genética de esta mutación de LRRK2 para el diagnóstico de la enfermedad de Parkinson.

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