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|Title:||Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability|
|Citation:||Nature Genetics, 2010; 42(6):486-488|
|Publisher:||Nature Publishing Group|
|Cheryl Shoubridge... Jozef Gécz... et al.|
|Abstract:||The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.|
|Keywords:||Chromosomes, Human, X|
Mental Retardation, X-Linked
Guanine Nucleotide Exchange Factors
|Rights:||© 2010 Nature America, Inc. All rights reserved.|
|Appears in Collections:||Aurora harvest|
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