Your Article Summary
See Latest ArticlesNovel 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.
Today in Basic Science/Genetics...keeping you current
Receive free subspecialty "5-minute updates" via email
Prevalence of Pancreatic Diabetes in Patients Carrying Mutations or Polymorphisms of the PRSS1 Gene in the Han Population
Diabetes Technology & Therapeutics, 12/16/09
Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B
Journal of Clinical Endocrinology and Metabolism, 12/16/09
Induction of Thyroid Gene Expression and Radioiodine Uptake in Thyroid Cancer Cells by Targeting Major Signaling Pathways
Journal of Clinical Endocrinology and Metabolism, 12/16/09