טוען...
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease
Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A, which leads to storage of complex glycosphingolipids inside of lysosomes in critical organs and tissues, impairing their functions and consequently re...
שמור ב:
| הוצא לאור ב: | Front Genet |
|---|---|
| Main Authors: | , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Frontiers Media S.A.
2019
|
| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6777637/ https://ncbi.nlm.nih.gov/pubmed/31611903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00783 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|