Sökning: "Tiina Robins"

Hittade 1 avhandling innehållade orden Tiina Robins.

  1. 1. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia

    Författare :Tiina Robins; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; CAH; CYP21; enzyme activity; modeling; genotype phenotype relationships; structure function relationships.;

    Sammanfattning : Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. A defect in the gene encoding steroid 21-hydroxylase, CYP21, results in impaired synthesis of cortisol and in most cases also aldosterone. LÄS MER