๐”– Bobbio Scriptorium
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Another family with a silent allele of properdin factor B polymorphism (BF*QO)

โœ Scribed by J. Bertrams; G. Mauff


Publisher
Springer
Year
1985
Tongue
English
Weight
243 KB
Volume
70
Category
Article
ISSN
0340-6717

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Defective, deleted or converted CYP21B g
โœ N. Ghanem; J. M. Lobaccaro; C. Buresi; M. Abbal; G. Halaby; C. Sultan; G. Lefran ๐Ÿ“‚ Article ๐Ÿ“… 1990 ๐Ÿ› Springer ๐ŸŒ English โš– 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