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Article(2)
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Enfermedades(2)
Bioquímica(1)
Farmacología y terapéutica(1)
Fisiología humana(1)
Ginecología, obstetricia, pediatría, geriatría(1)
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Genética(2)
Año de Publicación
2004(2)
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scopus(2)
Two 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