Molecular pathology of 21-hydroxylase deficiency
β Scribed by T. Strachan
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 735 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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We describe three different forms of 21-hydroxylase deficiency-classical congenital adrenal hyperplasia (CAH), late-onset 21-hydroxylase deficiency, and cryptic 21-hydroxylase deficiency-and we present hormonal standards by which to assign the appropriate 21-hydroxylase deficiency genotype for these
Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application