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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Academic Press
2012
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| Materias: | |
| 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 |