Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

The majority of Gaucher Disease (GD) cases result from pathologic mutations in the GBA1 gene. A rich mutational spectrum of about 500 identified variants has been recognized. The disease is characterized by phenotypic diversity. Data regarding the genotype-phenotype correlation are scanty and inconc...

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Detalles Bibliográficos
Autores principales: Ridova, Nevenka, Trajkova, Sanja, Chonevska, Biljana, Stojanoski, Zlate, Ivanovski, Martin, Popova-Labachevska, Marija, Stojanovska-Jakimovska, Simona, Filipche, Venko, Sofijanova, Aspazija, Panovska-Stavridis, Irina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283653/
https://www.ncbi.nlm.nih.gov/pubmed/35845720
http://dx.doi.org/10.1016/j.ymgmr.2022.100895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283653/
https://www.ncbi.nlm.nih.gov/pubmed/35845720
http://dx.doi.org/10.1016/j.ymgmr.2022.100895

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