Internal Med Medical News about 11beta-hydroxylase

Become a Member Today!
Register

Most Viewed Abstracts

1. Report Shows Shift in Starting Salaries for Physicians

2. Recommendations on the use of 18F-FDG PET in oncology

3. Gene expression signatures, clinicopathological features, and individualized therapy in breast cancer

4. AHA Guidelines on Cardiac CT for Assessing Coronary Artery Disease

5. Rapid correction of low vitamin D status in nursing home residents

Your Article Summary

See Latest Articles

(Click the title below to leave the MDLinx Network and go to the Journal's Website)

Novel mutations in cyp11b1 gene leading to 11beta-hydroxylase deficiency in brazilian patients
Journal of Clinical Endocrinology and Metabolism, 07/02/09

Mello MPD et al. - The authors describe two novel mutations, g.4671 4672insC and g.2791G>A, that drastically affects normal protein structure. These mutations abolish normal enzyme activity leading to a severe phenotype of CAH due to 11beta-hydroxylase deficiency.

<< Previous
Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic...

Next >>
Successful Control of Intractable Hypoglycemia Using Rapamycin in...