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False-positive results using a Gaucher diagnostic kit--RecTL and N370S.
Choi JH, Velayati A, Stubblefield BK, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E. Choi JH, et al. Among authors: velayati a. Mol Genet Metab. 2010 May;100(1):100-2. doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20096616 Free PMC article.
A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 Free PMC article.
The role of saposin C in Gaucher disease.
Tamargo RJ, Velayati A, Goldin E, Sidransky E. Tamargo RJ, et al. Among authors: velayati a. Mol Genet Metab. 2012 Jul;106(3):257-63. doi: 10.1016/j.ymgme.2012.04.024. Epub 2012 May 5. Mol Genet Metab. 2012. PMID: 22652185 Free PMC article. Review.
302 results