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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S92 - S92
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1376 - 14
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Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S117 - S118
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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S142 - S142
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PLoS ONE, ISSN 1932-6203, 12/2013, Volume 8, Issue 12, p. e84267
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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S117 - S117
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2013, Volume 110, Issue 36, pp. 14628 - 14633
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Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S132 - S132
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2011, Volume 56, Issue 6, pp. 467 - 468
Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease... 
protein structure | Fabry disease | database | a-galactosidase A | Amino-acid substitution | alpha-galactosidase A | amino-acid substitution | GENETICS & HEREDITY | alpha-Galactosidase - genetics | User-Computer Interface | alpha-Galactosidase - chemistry | Phenotype | Fabry Disease - genetics | Humans | Databases, Genetic | Genotype | Internet | Mutation - genetics
Journal Article
Neuroscience research, ISSN 0168-0102, 07/2019
Sandhoff disease (SD) is a genetic disorder caused by a mutation of HEXB, which is the β-subunit gene of β-hexosaminidase A and B (HexA and HexB) in humans.... 
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