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Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease

Establishing the molecular basis of DNA mutations that cause inherited disease is of fundamental importance to understanding the origin, nature, and clinical sequelae of genetic disorders in humans. The majority of disease-associated mutations constitute single-base substitutions and short deletions...

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Main Authors: Casola, Claudio, Zekonyte, Ugne, Phillips, Andrew D., Cooper, David N., Hahn, Matthew W.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Cold Spring Harbor Laboratory Press 2012
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3290778/
https://ncbi.nlm.nih.gov/pubmed/22090377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.127738.111
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