Загрузка...
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...
Сохранить в:
| Главный автор: | |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
1979
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685792/ https://ncbi.nlm.nih.gov/pubmed/463876 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|