Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

Biallelic mutations of the human RNU4ATAC gene, which codes for the minor spliceosomal U4atac snRNA, cause the developmental disorder, MOPD I/TALS. To date, nine separate mutations in RNU4ATAC have been identified in MOPD I patients. Evidence suggests that all of these mutations lead to abrogation o...

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Detalles Bibliográficos
Autores principales: Jafarifar, Faegheh, Dietrich, Rosemary C., Hiznay, James M., Padgett, Richard A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114687/
https://www.ncbi.nlm.nih.gov/pubmed/24865609
http://dx.doi.org/10.1261/rna.045187.114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114687/
https://www.ncbi.nlm.nih.gov/pubmed/24865609
http://dx.doi.org/10.1261/rna.045187.114

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