Article
Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
Indian journal of biochemistry & biophysics - 1 Oct 2013
Narayanan M P, Menon Krishnakumar N, Vasudevan D M
Abstract excerpt
Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1alpha, E1beta and E2 subunits of the branched-chain alpha-keto acid dehydrogenase complex, respectively. Because disease causing mutations play a major role in the development of the disease, prenatal diagnosis at gestational level may have significance in making decisions by parents....
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