Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S()

Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from deficient glucocerebrosidase activity. More than 350 mutations that cause Gaucher disease have been described to date. Novel mutations can potentially provide insight into the glucocerebrosidase structure–function re...

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Detalles Bibliográficos
Autores principales: Hoitsema, Kourtnee, Amato, Dominick, Khan, Aneal, Sirrs, Sandra, Choy, Francis Y.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856859/
https://www.ncbi.nlm.nih.gov/pubmed/27222815
http://dx.doi.org/10.1016/j.mgene.2016.03.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856859/
https://www.ncbi.nlm.nih.gov/pubmed/27222815
http://dx.doi.org/10.1016/j.mgene.2016.03.003

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