la SINDROME DA X FRAGILE: nuovi studi sulle cause (e nuove speranze terapeutiche)
28.02.2014 17:25
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D. Colak, N. Zaninovic, M. S. Cohen, Z. Rosenwaks, W.-Y. Yang, J. Gerhardt, M. D. Disney, S. R. Jaffrey. Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome. Science, 2014; 343 (6174): 1002 DOI: 10.1126/science.1245831
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Eur J Hum Genet. 2014 Jan 22. doi: 10.1038/ejhg.2013.311. [Epub ahead of print]
Fragile X syndrome due to a missense mutation.
Myrick LK1, Nakamoto-Kinoshita M1, Lindor NM2, Kirmani S3, Cheng X4, Warren ST5.
https://www.ncbi.nlm.nih.gov/pubmed/24448548