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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...

詳細記述

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書誌詳細
主要な著者: Casola, Claudio, Zekonyte, Ugne, Phillips, Andrew D., Cooper, David N., Hahn, Matthew W.
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2012
主題:
オンライン・アクセス: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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