Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency | Zendy

Andrea Luczay | Zendy; Dóra Török | Zendy; A Ferenczi | Zendy; Judit Majnik | Zendy; J. Sólyom | Zendy; G Fekete | Zendy

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Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

Author(s) -

Andrea Luczay,

Dóra Török,

A Ferenczi,

Judit Majnik,

J. Sólyom,

G Fekete

Publication year - 2006

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje.1.02162

Subject(s) - congenital adrenal hyperplasia , virilization , medicine , endocrinology , genotype , glucocorticoid receptor , population , 21 hydroxylase , allele , biology , hormone , glucocorticoid , androgen , genetics , gene , environmental health

Congenital adrenal hyperplasia (CAH) shows a range of severity which is explained in part by the different mutations of the CYP21 gene. To better understand the incomplete concordance between genotype and phenotype in CAH the role of the sensitizing N363S polymorphism of the glucocorticoid receptor (GR) was examined in CAH patients.

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