DNA polymorphism unique for a complotype with deletion of HLA-linked C4B and 21-hydroxylase B genes causing congenital adrenal hyperplasia

Defective, deleted or converted CYP21B g

Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia

✍ N. Ghanem; J. M. Lobaccaro; C. Buresi; M. Abbal; G. Halaby; C. Sultan; G. Lefran 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 922 KB

Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjace