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Molecular Genetics of 21- Hydroxylase Deficiency
2010More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase activity. The CYP21A2 gene is located in the HLA class III region, as a component of so called RCCX modules
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[Genetic of the 21 hydroxylase deficiency].
Annales d'endocrinologie, 1982A dose genetic linkage exist between the HLA complex (especially HLA-B), and the 21 hydroxylase deficiency form of adrenal hyperplasia. By their polymorphisms HLA antigens can be used as "markers" to follow the segregation of 21-OH deficiency in families, to diagnose the heterozygous offspring and eventually to offer a prenatal diagnosis to couples at ...
A, Boué +4 more
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DETECTION OF HETEROZYGOTE OF 21-HYDROXYLASE DEFICIENCY
The Lancet, 1980L S, Levine +5 more
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THE MOLECULAR GENETICS OF 21-HYDROXYLASE DEFICIENCY
Annual Review of Genetics, 1989W L, Miller, Y, Morel
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Autoimmune Addison's disease and 21-hydroxylase
The Lancet, 1992A, Baumann-Antczak +7 more
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Molecular analysis of the 21‐hydroxylase gene
Clinical Endocrinology, 2003A, Belgorosky, R, Marino, M, Rivarola
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