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Nobel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
(Biomed Central LtdLondonInglaterra, 2010)
Genetic characterization of a large cohort of Argentine 21-hydroxylase deficiency
(Wiley Blackwell Publishing, Inc, 2020-07)
Context: 21-hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms—salt wasting and simple virilizing—and a mild or nonclassical (NC). Several studies ...
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency
(WILEY-BLACKWELL PUBLISHING, INC, 2009)
The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydroxylase deficiency. Fifty-four patients from 46 families (36 female, 18 male; mean ...
A De Novo Mutation In Cyp21a2 Gene In A Case Of In Vitro Fertilization
(Elsevier Inc., 2015)