Novel mutations of the GLA gene in Japan
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Masaaki Shimotori; Hiroki Maruyama; Gen Nakamura; Takayuki Suyama; Fumiko Sakamo
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Article
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2008
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John Wiley and Sons
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English
⚖ 613 KB
Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.22). The causative mutations are diverse, include both large rearrangements and single-base substitutions, and are dispersed throughout the 7 exons of the a