GENETIC BIOMARKERS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
Number of patents in Portfolio can not be more than 2000
United States of America Patent
Stats
-
N/A
Issued Date -
Mar 13, 2014
app pub date -
Sep 7, 2012
filing date -
Sep 7, 2012
priority date (Note) -
Abandoned
status (Latency Note)
Importance
Abstract
The genetic biomarkers for glucose-6-phosphate dehydrogenase (G6PD) deficiency are five haplotypes representing mutations of the G6PD gene on the X chromosome. Each of these haplotypes codes for more than one non-conservative amino acid change. The present inventors have discovered that when mutations of the G6PD gene result in at least two non-conservative amino acid changes in combination, expression of the G6PD enzyme or the stability of the G6PD enzyme is severely decreased, presenting a substantial risk of disease resulting from the deficiency, even in female patients who would normally be considered asymptomatic carriers of the genetic mutation(s).
First Claim
Family
International Classification(s)
- [Classification Symbol]
- [Patents Count]
Cited Art Landscape
Patent Citation Ranking
Recipient Email Address
Recipient Email Address
Comment
Recipient Email Address
Add to Portfolio(s)
To add this patent to one, or more, of your portfolios, simply click the add button.
This Patent is in these Portfolios:
Add to additional portfolios:
Last Refreshed On:
Changes done successfully