Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nucleotide sequence identity CYP21A1P pseudogene, on...

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Detalles Bibliográficos
Autores principales: Minutolo, C., Nadra, A.D., Fernández, C., Taboas, M., Buzzalino, N., Casali, B., Belli, S., Charreau, E.H., Alba, L., Dain, L.
Formato: Artículo publishedVersion
Lenguaje:Inglés
Publicado: 2011
Materias:
cytochrome P450 2C
cytochrome P450 2C21
steroid 21 monooxygenase
unclassified drug
CYP21A2 protein, human
article
chromosome 6p
congenital adrenal hyperplasia
exon
frameshift mutation
gene deletion
gene mutation
genotype
heterozygote detection
human
nucleotide sequence
phenotype
point mutation
promoter region
protein stability
protein structure
pseudogene
salt wasting
sequence analysis
steroid 21 monooxygenase deficiency
structure analysis
algorithm
Argentina
case control study
chemical structure
chemistry
genetic predisposition
genetics
mutation
Mammalia
Adrenal Hyperplasia, Congenital
Algorithms
Case-Control Studies
Genetic Predisposition to Disease
Humans
Models, Molecular
Mutation
Protein Stability
Steroid 21-Hydroxylase
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_19326203_v6_n1_p_Minutolo
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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