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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Ou, Li, Kim, Sarah, Whitley, Chester B., Jarnes-Utz, Jeanine R.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Research Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6646740/
https://ncbi.nlm.nih.gov/pubmed/31367523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100495
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker