Novel pathogenic mutations in the glucocerebrosidase locus

To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site chang...

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Detalles Bibliográficos
Autores principales: Duran, Raquel, McNeill, Alisdair, Mehta, Atul, Hughes, Derralyn, Cox, Timothy, Deegan, Patrick, Schapira, Anthony H.V., Hardy, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2012
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3426931/
https://www.ncbi.nlm.nih.gov/pubmed/22658918
http://dx.doi.org/10.1016/j.ymgme.2012.05.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3426931/
https://www.ncbi.nlm.nih.gov/pubmed/22658918
http://dx.doi.org/10.1016/j.ymgme.2012.05.006

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