Article
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency.
Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie - 1 Jun 1990
Kochhan L, Janssen S, Knorr D, Olek K, Bidlingmaier F
Abstract excerpt
In order to develop an optimal strategy for the prenatal diagnosis of steroid 21-hydroxylase (EC 1.14.99.10) deficiency, we investigated 16 affected families with salt wasting syndrome. Genomic DNA derived from peripheral white blood cells was digested with 6 different restriction enzymes. Hybrid...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Child
- Child, Preschool
- Complement C4
- Complement C4b
- DNA Probes
- DNA Probes, HLA
- Genotype
- Humans
- Peptide Fragments
- Steroid 21-Hydroxylase