Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
|
| Materias: | |
| 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 |