Mutations in Human Genetic Disease
Different 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...
সংরক্ষণ করুন:
| বিন্যাস: | Online |
|---|---|
| ভাষা: | ইংরেজি |
| প্রকাশিত: |
IntechOpen
2021
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | ONIX_20210420_9789535107903_1598 |
| ট্যাগগুলো: |
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| _version_ | 1869515061339357184 |
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| collection | Directory of Open Access Books |
| description | Different 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. |
| format | Online |
| id | doab-20.500.12854ir-66240 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | IntechOpen |
| publisherStr | IntechOpen |
| record_format | ojs |
| spelling | doab-20.500.12854ir-662402024-03-31T22:45:20Z Mutations in Human Genetic Disease Cooper, David N. Chen, Jian-Min Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Different 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. 2021-04-20T15:37:40Z 2021-04-20T15:37:40Z 2012 book ONIX_20210420_9789535107903_1598 9789535107903 9789535153290 https://directory.doabooks.org/handle/20.500.12854/66240 eng image/jpeg n/a https://www.intechopen.com/books https://mts.intechopen.com/storage/books/2535/authors_book/authors_book.pdf IntechOpen IntechOpen 10.5772/2912 10.5772/2912 78a36484-2c0c-47cb-ad67-2b9f5cd4a8f6 9789535107903 9789535153290 IntechOpen 306 open access |
| spellingShingle | Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Mutations in Human Genetic Disease |
| title | Mutations in Human Genetic Disease |
| title_full | Mutations in Human Genetic Disease |
| title_fullStr | Mutations in Human Genetic Disease |
| title_full_unstemmed | Mutations in Human Genetic Disease |
| title_short | Mutations in Human Genetic Disease |
| title_sort | mutations in human genetic disease |
| topic | Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| topic_facet | Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| url | ONIX_20210420_9789535107903_1598 |