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https://hdl.handle.net/2440/61881
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dc.contributor.author | Shoubridge, C. | - |
dc.contributor.author | Tarpey, P. | - |
dc.contributor.author | Abidi, F. | - |
dc.contributor.author | Ramsden, S. | - |
dc.contributor.author | Rujirabanjerd, S. | - |
dc.contributor.author | Murphy, J. | - |
dc.contributor.author | Boyle, J. | - |
dc.contributor.author | Shaw, M. | - |
dc.contributor.author | Gardner, A. | - |
dc.contributor.author | Proos, A. | - |
dc.contributor.author | Puusepp, H. | - |
dc.contributor.author | Raymond, F. | - |
dc.contributor.author | Schwartz, C. | - |
dc.contributor.author | Stevenson, R. | - |
dc.contributor.author | Turner, G. | - |
dc.contributor.author | Field, M. | - |
dc.contributor.author | Walikonis, R. | - |
dc.contributor.author | Harvey, R. | - |
dc.contributor.author | Hackett, A. | - |
dc.contributor.author | Futreal, P. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2010 | - |
dc.identifier.citation | Nature Genetics, 2010; 42(6):486-488 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.issn | 1546-1718 | - |
dc.identifier.uri | http://hdl.handle.net/2440/61881 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | Cheryl Shoubridge... Jozef Gécz... et al. | - |
dc.language.iso | en | - |
dc.publisher | Nature Publishing Group | - |
dc.rights | © 2010 Nature America, Inc. All rights reserved. | - |
dc.source.uri | http://dx.doi.org/10.1038/ng.588 | - |
dc.subject | Chromosomes, Human, X | - |
dc.subject | Humans | - |
dc.subject | Mental Retardation, X-Linked | - |
dc.subject | Guanine Nucleotide Exchange Factors | - |
dc.subject | Pedigree | - |
dc.subject | Mutation | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.title | Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/ng.588 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Shoubridge, C. [0000-0002-0157-3084] | - |
dc.identifier.orcid | Shaw, M. [0000-0002-5060-190X] | - |
dc.identifier.orcid | Gardner, A. [0009-0009-7321-1697] | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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