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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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Bibliografiske detaljer
Main Authors: Casola, Claudio, Zekonyte, Ugne, Phillips, Andrew D., Cooper, David N., Hahn, Matthew W.
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2012
Fag:
Online adgang: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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