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Disease-Causing Missense Mutations in Human DNA Helicase Disorders

Helicases have important roles in nucleic acid metabolism, and their prominence is marked by the discovery of genetic disorders arising from disease-causing mutations. Missense mutations can yield unique insight to molecular functions and basis for disease pathology. XPB or XPD missense mutations le...

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Bibliografiske detaljer
Main Authors: Suhasini, Avvaru N., Brosh, Robert M.
Format: Artigo
Sprog:Inglês
Udgivet: 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3640642/
https://ncbi.nlm.nih.gov/pubmed/23276657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mrrev.2012.12.004
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