A point mutation in the FMR-1 gene associated with fragile X mental retardation-Reference-Cited by-同舟云学术

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Published:1993-01 Issue:1 Volume:3 Page:31-35
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

De Boulle Kristel,Verkerk Annemieke J.M.H.,Reyniers Edwin,Vits Lieve,Hendrickx Jan,Van Roy Bernadette,Van Den Bos Feikje,de Graaff Esther,Oostra Ben A.,Willems Patrick J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0193-31.pdf

Reference27 articles.

1. Verkerk, A.J.M.H. 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 65, 905–914 (1991).

2. Kremer, E. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(GCG)n . Science 252, 1711–1714 (1991).

3. Yu, S. et al. Fragile X genotype characterized by an unstable region of DNA. Science 252, 1179–1181 (1991).

4. Fu, Y.H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047–1058 (1991).

5. Rousseau, F. et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Engl. J. Med. 325, 1673–1681 (1991).

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