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High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

BACKGROUND: The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs). Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is...

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Detalles Bibliográficos
Autores principales:	Parajes, Silvia, Quinteiro, Celsa, Domínguez, Fernando, Loidi, Lourdes
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2364643/ https://www.ncbi.nlm.nih.gov/pubmed/18478071 http://dx.doi.org/10.1371/journal.pone.0002138

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