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21-hydroxylase deficiency congenital adrenal hyperplasia

21-hydroxylase deficiency congenital adrenal hyperplasia,10.1016/0960-0760(94)90246-1,Journal of Steroid Biochemistry and Molecular Biology,M NEW

21-hydroxylase deficiency congenital adrenal hyperplasia   (Citations: 13)
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    • ...Abnormalities involving the CYP21 gene include large-scale deletions or gene conversion events that result in a transfer of smaller-scale deleterious mutations normally present in the pseudogene [...

    Kah Yin Lokeet al. Molecular Analysis of CYP21 Mutations for Congenital Adrenal Hyperplas...

    • ...In general, 21OH with mutations identified in patients with CAH displays biochemical activities that correspond to the clinical severity of the disease (2, 3, 7). In this study we have tested five of these disease-causing mutations to determine their effects on the ability of 21OHAb to precipitate 21OH...
    • ...In myasthenia gravis, a fraction of the Abs are specifically directed to the acetylcholine binding site of the acetylcholine receptor, directly inhibiting the function of the receptor (21)...

    J. Immunol. Luthmanet al. 21Hydroxylase Functional Domain of Human Steroid Carboxyl-Terminal Dis...

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