Article
21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.
The Journal of clinical endocrinology and metabolism - 1 Jan 1990
Haglund-Stengler B, Ritzén E M, Luthman H
Abstract excerpt
The types of disease-causing mutations were studied in 43 unrelated patients with 21-hydroxylase deficiency. Densitometry of Southern blots after cleavage with the restriction enzymes TaqI, PvuII, and BglII was used to measure the ratio of the copy-number of the 21-hydroxylase gene (CYP21) to the...
Topics
- Adrenal Hyperplasia, Congenital
- Blotting, Southern
- DNA
- DNA Restriction Enzymes
- Densitometry
- Genes
- Genotype
- Humans
- Mutation
- Nucleic Acid Hybridization
- Steroid 21-Hydroxylase
- Steroid Hydroxylases