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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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Detalles Bibliográficos
Autores principales: Saito, Seiji, Ohno, Kazuki, Sakuraba, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
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