Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference20 articles.
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2. A point mutation in the FMR-1 gene associated with fragile X mental retardation;De Boulle;Nat. Genet.,1993
3. Deletion of the KH1 Domain of Fmr1 Leads to transcriptional alterations and attentional deficits in rats;Golden;Cer. Cortex,2019
4. A nonsense mutation in FMR1 causing fragile X syndrome;Grønskov;Eur. J. Hum. Genet.,2011
5. Grozeva, D., Carss, K., Spasic-Boskovic, O., Tejada, M.I., Gecz, J., Shaw, M., Corbett, M., Haan, E., Thompson, E., Friend, K., Hussain, Z., Hackett, A., Field M., Renieri, A., Stevenson,.R, Schwartz, C., Floyd, J.A., Bentham, J., Cosgrove, C., Keavney, B., Bhattacharya, S., 2015. Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles, M.; Raymond, F.L. 2015. Targeted Next-Generation Sequencing Analysis of 1;000 Individuals with Intellectual Disability. Hum. Mutat. 36(12):1197-1204. DOI:10.1002/humu.22901.
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