Fragile X syndrome due to a missense mutation-Reference-Cited by-同舟云学术

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Fragile X syndrome due to a missense mutation

Published:2014-01-22 Issue:10 Volume:22 Page:1185-1189
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Myrick Leila K,Nakamoto-Kinoshita Mika,Lindor Noralane M,Kirmani Salman,Cheng Xiaodong,Warren Stephen T

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013311.pdf

Reference25 articles.

1. Santoro MR, Bray SM, Warren ST : Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Ann Rev Pathol 2012; 7: 219–245.

2. Wang LW, Berry-Kravis E, Hagerman RJ : Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics 2010; 7: 264–274.

3. Verkerk AJ, Pieretti M, Sutcliffe JS et al: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905–914.

4. Fu YH, Kuhl DP, Pizzuti A et al: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047–1058.

5. Bassell GJ, Warren ST : Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008; 60: 201–214.

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