Article
MECP2 Mutations in the Rett Syndrome Patients from South India.
Neurology India - 1 Jan 2000
Anitha Ayyappan, Poovathinal Suresh A, Viswambharan Vijitha, Thanseem Ismail, Iype Mary, Anoop U, Sumitha P S, Parakkal Rahna, Vasu Mahesh M
Abstract excerpt
Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a de novo mutation in the MECP2 gene located on the X chromosome. About 1000 MECP2 mutations have been found to be associated with RTT. Objective: The present study is aimed at the mutation screening of MECP2 gene in the RTT patients belonging to the south Indian state of Kerala....
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