Classic Steroid 11β-Hydroxylase Deficiency Caused by a C→G Transversion in Exon 7 of CYP11B1

• 1 November 1995
• journal article
• case report
• Published by Elsevier in Biochemical and Biophysical Research Communications
• Vol. 216  (2) , 723-728
• https://doi.org/10.1006/bbrc.1995.2681

Abstract

Keywords

• NUCLEOTIDE SEQUENCE
• POINT MUTATION
• MOLECULAR GENETICS
• AUTOSOMAL RECESSIVE
• RESTRICTION FRAGMENT LENGTH POLYMORPHISM
• GENOMIC DNA