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 Fa...
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Autores principales: | , , |
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Formato: | article |
Lenguaje: | EN |
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Public Library of Science (PLoS)
2013
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Acceso en línea: | https://doaj.org/article/d40fbeb4682a45fe9b53e669f8fd40a1 |
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