Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics

Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5′-splice-site (5′ss) mutations that are not predicted to disrupt splicing, according to position weight matrices. By using comparative genomics, we identify pairwise dependencies be...

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Detalhes bibliográficos
Main Authors: Roca, Xavier, Olson, Andrew J., Rao, Atmakuri R., Enerly, Espen, Kristensen, Vessela N., Børresen-Dale, Anne-Lise, Andresen, Brage S., Krainer, Adrian R., Sachidanandam, Ravi
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2008
Assuntos:
Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2134769/
https://ncbi.nlm.nih.gov/pubmed/18032726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.6859308
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