A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease
Open Access
- 1 January 1998
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 11 (S1), S139-S140
- https://doi.org/10.1002/humu.1380110147
Abstract
Click on the article title to read more.Keywords
This publication has 4 references indexed in Scilit:
- Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A geneHuman Mutation, 1994
- Plasma Interleukin 8 Levels Are Increased by HemodialysisBlood Purification, 1994
- Nucleotide sequence of the human α-galactosidase A geneNucleic Acids Research, 1989
- Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.Proceedings of the National Academy of Sciences, 1986