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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...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3873411/ https://ncbi.nlm.nih.gov/pubmed/24386359 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0084267 |
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