Show simple item record

dc.contributor.editorCooper, David N.
dc.contributor.editorChen, Jian-Min
dc.date.accessioned2021-04-20T15:37:40Z
dc.date.available2021-04-20T15:37:40Z
dc.date.issued2012
dc.identifierONIX_20210420_9789535107903_1598
dc.identifier.urihttps://directory.doabooks.org/handle/20.500.12854/66240
dc.description.abstractDifferent types of mutation can vary in size, from structural variants 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 higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.
dc.languageEnglish
dc.subject.classificationthema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical geneticsen_US
dc.subject.otherMedical genetics
dc.titleMutations in Human Genetic Disease
dc.typebook
oapen.identifier.doi10.5772/2912
oapen.relation.isPublishedBy78a36484-2c0c-47cb-ad67-2b9f5cd4a8f6
oapen.relation.isbn9789535107903
oapen.relation.isbn9789535153290
oapen.imprintIntechOpen
oapen.pages306


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

https://creativecommons.org/licenses/by/3.0/
Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by/3.0/