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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Hlavní autoři: Duran, Raquel, McNeill, Alisdair, Mehta, Atul, Hughes, Derralyn, Cox, Timothy, Deegan, Patrick, Schapira, Anthony H.V., Hardy, John
Médium: Artigo
Jazyk:Inglês
Vydáno: Academic Press 2012
Témata:
Brief Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3426931/
https://ncbi.nlm.nih.gov/pubmed/22658918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.05.006
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