Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

标题
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
作者
关键词
-
出版物
MOLECULAR GENETICS AND METABOLISM
Volume 113, Issue 3, Pages 161-170
出版商
Elsevier BV
发表日期
2014-04-13
DOI
10.1016/j.ymgme.2014.04.001

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