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Description
Clinical spectrum includes 1) Global developmental delay (78%), infantile hypotonia (68%), 2) Epilepsy and 3) movement disorders (choreaathetosis (44%), dystonia (30%)
When chronic inflammation is part of the research interest, KLOW is the more common choice
In support of this interpretation, the ITC of CBS FL , where the protein can respond to both ligand binding and conformational changes, demonstrated two apparent binding events (Supplementary Fig
10.1053/j.gastro.2011.07.043 89 RajokaM
Biochem Biophys Res Commun 497:207213
Biol Psychiatry 2012;71:956-61
