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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5024463/
https://ncbi.nlm.nih.gov/pubmed/27628848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0505-0
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