Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease-Reference-Cited by-同舟云学术

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Published:2006-06-04 Issue:7 Volume:38 Page:801-806
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Rees Mark I,Harvey Kirsten,Pearce Brian R,Chung Seo-Kyung,Duguid Ian C,Thomas Philip,Beatty Sarah,Graham Gail E,Armstrong Linlea,Shiang Rita,Abbott Kim J,Zuberi Sameer M,Stephenson John B P,Owen Michael J,Tijssen Marina A J,van den Maagdenberg Arn M J M,Smart Trevor G,Supplisson Stéphane,Harvey Robert J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1814.pdf

Reference30 articles.

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2. Shiang, R. et al. Mutational analysis of familial and sporadic hyperekplexia. Ann. Neurol. 38, 85–91 (1995).

3. Rees, M.I. et al. Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia. Hum. Genet. 109, 267–270 (2001).

4. Rees, M.I. et al. Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB). Hum. Mol. Genet. 11, 853–860 (2002).

5. Rees, M.I. et al. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. J. Biol. Chem. 278, 24688–24696 (2003).

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