Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

标题
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
作者
关键词
AKT3, Hypoglycemia, Ketogenic diet, MPPH/MCAP
出版物
MOLECULAR GENETICS AND METABOLISM
Volume 114, Issue 3, Pages 467-473
出版商
Elsevier BV
发表日期
2014-12-06
DOI
10.1016/j.ymgme.2014.11.018

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