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...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2008
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/27087
- Acceso en línea:
- https://doi.org/10.1093/hmg/ddn116
https://repository.urosario.edu.co/handle/10336/27087
- Palabra clave:
- 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
Mutation
Nonsense
Phocomelia
Roberts-sc phocomelia syndrome
Longitudinal deficiency of limb
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- License
- Abierto (Texto Completo)