Article
A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population.
Human genetics - 1 Feb 1994
Wedell A, Chun X, Luthman H
Abstract excerpt
We describe a steroid 21-hydroxylase allele carrying four disease-causing mutations, viz. I173N, V282L, I237N + V238E + M240K, and the insertion of T at 308 L. The first two are established causes of partial enzyme deficiency, whereas the last two are known to result in the most severe, salt-wasting form of the disease. All four mutations are normally found in the pseudogene. This abnormal allele was found in the...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Base Sequence
- DNA
- DNA Primers
- Genetic Linkage
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction