Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0895-483.pdf
Reference24 articles.
1. Warren, S.T. & Nelson, D.L. Advances in molecular analysis of fragile X syndrome. J. Am. med. Assoc. 271, 536–542 (1994).
2. Hornstra, I.K., Nelson, D.L., Warren, S.T. & Yang, T.P. High resolution methylation analysis of the FMR1 gene trinucleotide region in fragile X syndrome. Hum. molec. Genet. 2, 1659–1665 (1993).
3. Hansen, R.S., Gartler, S.M., Scott, C.R., Chen, S.-H. & Laird, C.D. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum. molec. Genet. 1, 571–578 (1992).
4. Pieretti, M. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817–822 (1991).
5. Sutcliffe, J.S. et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. molec. Genet. 1, 397–400 (1992).
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