Mostrando 3 resultados de: 3
Filtros aplicados
Subtipo de publicación
Article(3)
Publisher
Journal of Clinical Endocrinology and Metabolism(2)
Arquivos Brasileiros de Endocrinologia e Metabologia(1)
Área temáticas
Enfermedades(3)
Bioquímica(1)
Farmacología y terapéutica(1)
Fisiología humana(1)
Ginecología, obstetricia, pediatría, geriatría(1)
Origen
scopus(3)
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patien
ArticleAbstract: Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rarePalabras claves:Autores:Costenaro F., Czepielewski M., Kater C.E., Papari-Zareei M., Richard J. Auchus, Rodrigues T.Fuentes:scopusTwo Intronic Mutations Cause 17-Hydroxylase Deficiency by Disrupting Splice Acceptor Sites: Direct Demonstration of Aberrant Splicing and Absent Enzyme Activity by Expression of the Entire CYP17 Gene in HEK-293 Cells
ArticleAbstract: To date, only two among 46 mutations in the CYP17 gene cause 17-hydroxylase deficiency (17OHD) by diPalabras claves:Autores:Costa-Santos M., Dias E., Kater C.E., Richard J. AuchusFuentes:scopusTwo Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency
ArticleAbstract: We performed molecular genetic analysis of 24 subjects from 19 families with 17-hydroxylase deficienPalabras claves:Autores:Costa-Santos M., Kater C.E., Richard J. AuchusFuentes:scopus