Lataa...
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.
Two families with unusual hexosaminidase A (HEX A) mutations are described. In one, the proband had the Tay-Sachs disease phenotype with considerable HEX A activity. In the second, the proband was phenotypically normal with absent HEX A activity. Activities using ganglioside GM2 as substrate demonst...
Tallennettuna:
| Päätekijät: | , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
1978
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685872/ https://ncbi.nlm.nih.gov/pubmed/747188 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|