High Incidence of the Fabry Disease Mutation IVS4 +919 G>A in Taiwan and Its Role in Idiopathic Hypertrophic Cardiomyopathy Patients
碩士 === 國立陽明大學 === 臨床醫學研究所 === 98 === Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. The estimated incidence of Fabry disease is about 1 in 50,000 males. Cardiac variant of Fabry disease is an atypical type of Fabry di...
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| Format: | Others |
| Language: | en_US |
| Published: |
2010
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| Online Access: | http://ndltd.ncl.edu.tw/handle/71581869331776565655 |