Mutations in MDH2 , Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
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منابع مشابه
GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.
Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) receptors subunit GRIN1 (GluN1) identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2017
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2016.11.014