Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

BACKGROUND: Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish descent. Mutations in the alpha subunit of HEXA that encodes for the β-hexosaminidas...

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Detalles Bibliográficos
Autores principales: Ibrahim, Doaa M. A., Ali, Ola S. M., Nasr, Hala, Fateen, Ekram, AbdelAleem, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009996/
https://www.ncbi.nlm.nih.gov/pubmed/36907859
http://dx.doi.org/10.1186/s13023-023-02637-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009996/
https://www.ncbi.nlm.nih.gov/pubmed/36907859
http://dx.doi.org/10.1186/s13023-023-02637-1

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