Wird geladen...
Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.
Patients with Sandhoff disease have less than 5% of normal levels of serum or tissue hexosaminidase activity. They are thought to have a defect in the structural gene for the beta chain of hexosaminidase (HEX). Heterozygotes for Sandhoff disease have approximately 50% of the total serum HEX activity...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
1979
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685792/ https://ncbi.nlm.nih.gov/pubmed/463876 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|