Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides. Phenotypes of gangliosidoses range from infantile, late-infantile, juvenile, and to the adult for...

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Detalles Bibliográficos
Autores principales: Ou, Li, Kim, Sarah, Whitley, Chester B., Jarnes-Utz, Jeanine R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646740/
https://www.ncbi.nlm.nih.gov/pubmed/31367523
http://dx.doi.org/10.1016/j.ymgmr.2019.100495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646740/
https://www.ncbi.nlm.nih.gov/pubmed/31367523
http://dx.doi.org/10.1016/j.ymgmr.2019.100495

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