Gaucher disease: New developments in treatment and etiology

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Jul 7, 2008 (publication date) through Dec 25, 2024

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Jul 7, 2008; 14(25): 3968-3973
Published online Jul 7, 2008. doi: 10.3748/wjg.14.3968

Table 1 Worldwide most common mutations in GD

Population	Most frequently observed mutations	Frequency of mutations (%)
Turkish[3]	N370S	61.80
	L444P
Japanese[4]	L444P	55
	F2131
Taiwanese[5]	L444P	78.50
	RecNciI
Czech and Slovak[6]	N370S	76
	L444P
	RecNciI
Ashkenazi Jews[7]	N370S,	93
	c.84-85insG IVS2 + 1G-->A L444P
Hungarian[8]	N370S	70.30
	L444P
	RecNciI
Spanish[9]	N370S	68.70
	L444P

Citation: Harmanci O, Bayraktar Y. Gaucher disease: New developments in treatment and etiology. World J Gastroenterol 2008; 14(25): 3968-3973
URL: https://www.wjgnet.com/1007-9327/full/v14/i25/3968.htm
DOI: https://dx.doi.org/10.3748/wjg.14.3968