A high rate of novel CYP11B1 mutations in Saudi Arabia

Author:

Alzahrani Ali S.,Alswailem Meshael M.,Murugan Avaniyapuram Kannan,Alhomaidah Doha S.,Capper Cameron P.,Auchus Richard J.,Qasem Ebtesam,Alzahrani Ohoud S.,Al-Sagheir Afaf,Bin-Abbas Bassam

Funder

King Abdulaziz City for Science and Technology

National Institute of General Medical Sciences for Richard J. Auchus

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders;Miller;Endocr. Rev.,2011

2. Congenital adrenal hyperplasia;Merke;Lancet (Lond. Engl.),2005

3. Biochemical and genetic diagnosis of 21-hydroxylase deficiency;Falhammar;Endocrine,2015

4. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency;Geley;J. Clin. Endocrinol. Metab.,1996

5. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8;Curnow;Proc. Natl. Acad. Sci. U. S. A.,1993

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