Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B...

Molecular Genetics and Metabolism 2014 / 11 Vol. 113; Iss. 3

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

Adams, David R., Yuan, Hongjie, Holyoak, Todd, Arajs, Katrina H., Hakimi, Parvin, Markello, Thomas C., Wolfe, Lynne A., Vilboux, Thierry, Burton, Barbara K., Fajardo, Karin Fuentes, Grahame, George, H
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Volume:
113
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2014.04.001
Date:
November, 2014
File:
PDF, 3.70 MB
english, 2014
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