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In silico identification of candidate MECP2 targets and quantitative analysis in rett syndrome
(Bilkent University, 2006)
Rett syndrome (RTT) is an X-linked neuro-developmental disorder seen exclusively girls in the childhood. It is one of the most common causes of mental retardation with an incidence rate of 1/10,000-1/15,000. Mutations ...
Identification of ATP8A2 gene mutation in a consaguineous family segregating cerebellar atrophy and quadrupedal gait
(Bilkent University, 2012)
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome is a rare and heterogeneous neurodevelopmental disorder characterized by cerebellar atrophy, dysarthric speech, and quadrupedal locomotion. Here, a ...