New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease. - Suppr | 超能文献

New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.

作者信息

Kawanishi C, Osaka H, Inoue K, Onishi H, Yamada Y, Sugiyama N, Suzuki K, Hanihara T, Miyagawa T, Kimura S

机构信息

Department of Psychiatry, Yokohama City University School of Medicine, Japan.

出版信息

Hum Mutat. 1995;6(2):186-7. doi: 10.1002/humu.1380060214.

DOI:10.1002/humu.1380060214

Abstract

摘要

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引用本文的文献

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BMC Res Notes. 2015 Nov 24;8:711. doi: 10.1186/s13104-015-1696-5.

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Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.一对患有法布里病的女性单卵双胞胎中X染色体失活不均一，以及α-半乳糖苷酶A基因新突变的不一致表达。

J Med Genet. 1996 Aug;33(8):682-8. doi: 10.1136/jmg.33.8.682.