- Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease
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Park JY, Kim GH, Kim SS, Ko JM, Lee JJ, Yoo HW
- KMID: 756280
- Exp Mol Med.
- 2009 Jan;41(1):1-7.
- doi: 10.3858/emm.2009.41.1.001
Fabry disease is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the gene encoding the alpha-galactosidase A (GLA) enzyme. We have identified 15 distinct mutations in... -
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