The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

BACKGROUND: Although the majority of small in-frame insertions/deletions (indels) has no/little affect on protein function, a small subset of these changes has been causally associated with genetic disorders. Notably, the molecular mechanisms and frequency by which they give rise to disease phenotyp...

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Detalles Bibliográficos
Autores principales: Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024463/
https://www.ncbi.nlm.nih.gov/pubmed/27628848
http://dx.doi.org/10.1186/s13023-016-0505-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024463/
https://www.ncbi.nlm.nih.gov/pubmed/27628848
http://dx.doi.org/10.1186/s13023-016-0505-0

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