Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity-Reference-Cited by-同舟云学术

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

Published:2014-11 Issue:3 Volume:113 Page:161-170
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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,Holloman Conisha,Sincan Murat,Smith Ann C.M.,Wells Gordon A.,Huang Yan,Vega Hugo,Snyder James P.,Golas Gretchen A.,Tifft Cynthia J.,Boerkoel Cornelius F.,Hanson Richard W.,Traynelis Stephen F.,Kerr Douglas S.,Gahl William A.

Funder

the Intramural Research Program of the National Human Genome Research Institute

NIH Undiagnosed Diseases Pro

Center for Inherited Disorders of Energy Metabolism

Allison Foundation

National Center for Research Resources

Natural Sciences and Engineering Research Council of Canada

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference52 articles.