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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. Cellular alterations in RBS include lack of cohesion at the heterochromatic regions around centromeres and the long arm of the Y chromosome, reduced growth...

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Detalles Bibliográficos
Autores Principales: Gordillo, Miriam, Vega, Hugo, Trainer, Alison H., Hou, Fajian, Sakai, Norio, Luque, Ricardo
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Oxford University Press 2008
Materias:
Phenotype
Mutation
Cell cycle
Hypersensitivity
Growth retardation
Acetyltransferase
Cell death
Cell lines
Centromere
Chromatids
Craniofacial abnormalities
Dna
Frameshift mutation function
Missense mutation
Rna
Messengery
Chromosomes
Arm
Mitomycin
Nonsense
Phocomelia
Roberts-sc phocomelia syndrome
Longitudinal deficiency of limb
Acceso en línea:https://repository.urosario.edu.co/handle/10336/27087
https://doi.org/10.1093/hmg/ddn116

Internet

https://repository.urosario.edu.co/handle/10336/27087
https://doi.org/10.1093/hmg/ddn116

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