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Comparative Study of Structural Changes Caused by Different Substitutions at the Same Residue on α-Galactosidase A
Missense mutations in the α-galactosidase A (GLA) gene comprising the majority of mutations responsible for Fabry disease result in heterogeneous phenotypes ranging from the early onset severe “classic” form to the “later-onset” milder form. To elucidate the molecular basis of Fabry disease from the...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873411/ https://www.ncbi.nlm.nih.gov/pubmed/24386359 http://dx.doi.org/10.1371/journal.pone.0084267 |