AI Article Synopsis
Article Abstract
A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1685303 | PMC |
Publication Analysis
Top Keywords
hex activity
8
hex
7
characterization variant
4
variant beta-hexosaminidase
4
beta-hexosaminidase "hexosaminidase
4
"hexosaminidase paris"
4
paris" family
4
family father
4
father daughter
4
daughter deficiency
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!