A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome (2014)
- Authors:
- Autor USP: RODRIGUES, RODRIGO DO TOCANTINS CALADO DE SALOMA - FMRP
- Unidade: FMRP
- DOI: 10.1186/1471-2350-15-68
- Subjects: DOENÇAS HEMATOLÓGICAS (GENÉTICA); PROTEÍNAS NUCLEARES (METABOLISMO); NUCLEOTÍDEOS
- Language: Inglês
- Imprenta:
- Source:
- Título: BMC Medical Genetics
- ISSN: 1471-2350
- Volume/Número/Paginação/Ano: v. 15, art. 68, 2014
- Este artigo possui versão em acesso aberto
- URL de acesso aberto
- PDF de acesso aberto
- Versão do Documento: Versão publicada (Published version)
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Status: Artigo publicado em periódico de acesso aberto (Gold Open Access) -
ABNT
UEDA, Yasutaka et al. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Medical Genetics, v. 15, 2014Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-15-68. Acesso em: 15 mar. 2026. -
APA
Ueda, Y., Calado, R. T., Norberg, A., Kajigaya, S., Ross, G., Hellstrom-Lindberg, E., & Young, N. S. (2014). A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Medical Genetics, 15. doi:10.1186/1471-2350-15-68 -
NLM
Ueda Y, Calado RT, Norberg A, Kajigaya S, Ross G, Hellstrom-Lindberg E, Young NS. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome [Internet]. BMC Medical Genetics. 2014 ; 15[citado 2026 mar. 15 ] Available from: https://doi.org/10.1186/1471-2350-15-68 -
Vancouver
Ueda Y, Calado RT, Norberg A, Kajigaya S, Ross G, Hellstrom-Lindberg E, Young NS. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome [Internet]. BMC Medical Genetics. 2014 ; 15[citado 2026 mar. 15 ] Available from: https://doi.org/10.1186/1471-2350-15-68 - Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs
- Cell senescence and malignant transformation in the inherited bone marrow failure syndromes: overlapping pathophysiology with therapeutic implications
- Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia
- Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia
- Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis
- Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress
- Telomere dynamics in iPS cells derived from human patients with telomerase mutations
- Predictors of early mortality after rabbit antithymocyte globulin as first-line treatment in severe aplastic anemia
- Células reprogramadas. [Depoimento a Hérika Dias e Luis Ribeiro]
- A mutation in the CCAAT box of the TERC promoter region causes telomere disease
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