A common and two novel GBA mutations in Thai patients with Gaucher disease-Reference-Cited by-同舟云学术

A common and two novel GBA mutations in Thai patients with Gaucher disease

Published:2013-05-30 Issue:9 Volume:58 Page:594-599
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tammachote Rachaneekorn,Tongkobpetch Siraprapa,Srichomthong Chalurmpon,Phipatthanananti Kampon,Pungkanon Suthipong,Wattanasirichaigoon Duangrurdee,Suphapeetiporn Kanya,Shotelersuk Vorasuk

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201360.pdf

Reference17 articles.

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3. Diaz, G. A., Gelb, B. D., Risch, N., Nygaard, T. G., Frisch, A., Cohen, I. J. et al. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am. J. Hum. Genet. 66, 1821–1832 (2000).

4. Schmitz, M., Alfalah, M., Aerts, J. M., Naim, H. Y. & Zimmer, K. P. Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher’s disease. Int. J. Biochem. Cell Biol. 37, 2310–2320 (2005).

5. Tayebi, N., Stubblefield, B. K., Park, J. K., Orvisky, E., Walker, J. M., LaMarca, M. E. et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am. J. Hum. Genet. 72, 519–534 (2003).

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