A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

BACKGROUND: More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3. In this region, a 30 kb deletion produces a non functional chimeric gene with its 5' and 3&...

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Detalles Bibliográficos
Autores principales: Concolino, Paola, Mello, Enrica, Minucci, Angelo, Giardina, Emiliano, Zuppi, Cecilia, Toscano, Vincenzo, Capoluongo, Ettore
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718876/
https://www.ncbi.nlm.nih.gov/pubmed/19624807
http://dx.doi.org/10.1186/1471-2350-10-72

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718876/
https://www.ncbi.nlm.nih.gov/pubmed/19624807
http://dx.doi.org/10.1186/1471-2350-10-72

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