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A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.

作者信息

Miyazaki T, Kajita M, Ohmori S, Mizutani N, Niwa T, Murata Y, Seo H

机构信息

Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Japan.

出版信息

Hum Mutat. 1998;Suppl 1:S139-40. doi: 10.1002/humu.1380110147.

DOI:10.1002/humu.1380110147
PMID:9452068
Abstract
摘要

相似文献

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引用本文的文献

1
Structural characterization of mutant alpha-galactosidases causing Fabry disease.导致法布里病的突变α-半乳糖苷酶的结构表征。
J Hum Genet. 2008;53(9):812-824. doi: 10.1007/s10038-008-0316-9. Epub 2008 Jul 17.
2
Structure-function relationships in alpha-galactosidase A.α-半乳糖苷酶A中的结构-功能关系
Acta Paediatr. 2007 Apr;96(455):6-16. doi: 10.1111/j.1651-2227.2007.00198.x.