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Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
BACKGROUND: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine Kinase RP, complement C4, steroid 21-hydroxyl...
Autores principales: | Coeli, Fernanda B, Soardi, Fernanda C, Bernardi, Renan D, de Araújo, Marcela, Paulino, Luciana C, Lau, Ivy F, Petroli, Reginaldo J, de Lemos-Marini, Sofia HV, Baptista, Maria TM, Guerra-Júnior, Gil, de-Mello, Maricilda P |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161346/ https://www.ncbi.nlm.nih.gov/pubmed/20587039 http://dx.doi.org/10.1186/1471-2350-11-104 |
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