We have located links that may give you full text access.
Journal Article
Research Support, Non-U.S. Gov't
Review
Molecular genetics of peroxidase deficiency.
Journal of Molecular Medicine : Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte" 1998 September
Myeloperoxidase (MPO) belongs to a family of related proteins which also includes eosinophil, thyroid, and lactoperoxidase. The MPO gene is a 14-kb gene located on the long arm of chromosome 17. Thus far four mutations (R569W, Y173C, M251T and a 14-base deletion in exon 9) have been identified in patients with MPO deficiency. As in other genetically determined diseases, many more mutations will eventually be revealed that cause this disease. Present evidence shows that most patients are compound heterozygotes, i.e., they have inherited different mutations on their paternal and maternal MPO alleles. Understanding why some patients with this genetic deficiency develop clinical symptoms while others do not requires mutation analyses of a large number of patients. This includes the analysis of genotype-phenotype relationships. Genotyping has also been started in patients with EPO-deficiency.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
A Guide to the Use of Vasopressors and Inotropes for Patients in Shock.Journal of Intensive Care Medicine 2024 April 14
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app