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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research
On-line přístup: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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