A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

BACKGROUND: Mutations in the gene coding for the RNA component of telomerase, hTERC, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia. Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal blood disorder associated with aplastic anemia and characterized by the pr...

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Detalles Bibliográficos
Autores principales: Keith, W Nicol, Vulliamy, Tom, Zhao, Jiangqin, Ar, Cem, Erzik, Can, Bilsland, Alan, Ulku, Birsen, Marrone, Anna, Mason, Philip J, Bessler, Monica, Serakinci, Nedime, Dokal, Inderjeet
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC442127/
https://www.ncbi.nlm.nih.gov/pubmed/15212690
http://dx.doi.org/10.1186/1471-2326-4-3

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