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On the Sequence-Directed Nature of Human Gene Mutation: The Role of Genomic Architecture and the Local DNA Sequence Environment in Mediating Gene Mutations Underlying Human Inherited Disease

Different types of human gene mutation may vary in size, from structural variants (SVs) to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by high...

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Autores principales: Cooper, David N., Bacolla, Albino, Férec, Claude, Vasquez, Karen M., Kehrer-Sawatzki, Hildegard, Chen, Jian-Min
Formato: Artigo
Lenguaje:Inglês
Publicado: 2011
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3177966/
https://ncbi.nlm.nih.gov/pubmed/21853507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21557
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