A Novel Nonsense Mutation in the CYP11B1 Gene from a Subject with the Steroid 11β‐Hydroxylase Form of Congenital Adrenal Hyperplasia
- 1 January 2003
- journal article
- case report
- Published by Taylor & Francis in Endocrine Research
- Vol. 29 (4) , 377-381
- https://doi.org/10.1081/erc-120026943
Abstract
(2003). A Novel Nonsense Mutation in the CYP11B1 Gene from a Subject with the Steroid 11β‐Hydroxylase Form of Congenital Adrenal Hyperplasia. Endocrine Research: Vol. 29, No. 4, pp. 377-381.Keywords
This publication has 4 references indexed in Scilit:
- Characterization of Two Genes Encoding Human Steroid 11β-Hydroxylase (P-45011β)Published by Elsevier ,2021
- Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.Proceedings of the National Academy of Sciences, 1993
- Congenitally Defective Aldosterone Biosynthesis in Humans: Inactivation of the P450C18 Gene (CYP11B2) Due to Nucleotide Deletion in CMO I-Deficient PatientsBiochemical and Biophysical Research Communications, 1993
- The CpG dinucleotide and human genetic diseaseHuman Genetics, 1988