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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
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

Internet

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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