Open access peer-reviewed Edited Volume

Mutations in Human Genetic Disease

Edited by David Cooper

Cardiff University, United Kingdom


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.

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Mutations in Human Genetic DiseaseEdited by David Cooper

Published: October 12th 2012

DOI: 10.5772/2912

ISBN: 978-953-51-0790-3

eBook (PDF) ISBN: 978-953-51-5329-0

Copyright year: 2012

Books open for chapter submissions

35263 Total Chapter Downloads

16 Crossref Citations

29 Web of Science Citations

48 Dimensions Citations


Open access peer-reviewed

1. Missense Mutation in AR-CGD

By M. Yavuz Köker and Hüseyin Avcilar


Open access peer-reviewed

2. Missense Mutations in GDF-5 Signaling: Molecular Mechanisms Behind Skeletal Malformation

By Tina V. Hellmann, Joachim Nickel and Thomas D. Mueller


Open access peer-reviewed

3. Missense Mutation in the LDLR Gene: A Wide Spectrum in the Severity of Familial Hypercholesterolemia

By Mathilde Varret and Jean-Pierre Rabès


Open access peer-reviewed

4. Missense Mutation in Cancer in Correlation to Its Phenotype – VHL as a Model

By Suad AlFadhli


Open access peer-reviewed

5. Genotype-Phenotype Disturbances of Some Biomarkers in Colorectal Cancer

By Mihaela Tica, Valeria Tica, Alexandru Naumescu, Mihaela Uta, Ovidiu Vlaicu and Elena Ionica


Open access peer-reviewed

6. Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease

By Akl C. Fahed and Georges M. Nemer


Open access peer-reviewed

7. The Prototype of Hereditary Periodic Fevers: Familial Mediterranean Fever

By Afig Berdeli and Sinem Nalbantoglu


Open access peer-reviewed

8. Pathophysiological Roles of Mutations in the Electrogenic Na+-HCO - Cotransporter NBCe1

By George Seki, Shoko Horita, Masashi Suzuki, Osamu Yamazaki and Hideomi Yamada


Open access peer-reviewed

9. The Mutations and Their Relationships with the Genome and Epigenome, RNAs Editing and Evolution in Eukaryotes

By Daniel Frías-Lasserre


Open access peer-reviewed

10. Screening of Gene Mutations in Lung Cancer for Qualification to Molecularly Targeted Therapies

By Paweł Krawczyk, Tomasz Kucharczyk and Kamila Wojas-Krawczyk


Open access peer-reviewed

11. Clinical and Genetic Heterogeneity of Autism

By Yu Wang and Nanbert Zhong


Open access peer-reviewed

12. Bioinformatics Approaches to the Functional Profiling of Genetic Variants

By Biao Li, Predrag Radivojac and Sean Mooney


Open access peer-reviewed

13. Anderson’s Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene

By A. Sassolas, M. Di Filippo, L.P. Aggerbeck, N. Peretti and M.E. Samson-Bouma


Open access peer-reviewed

14. Activating Mutations and Targeted Therapy in Cancer

By Musaffe Tuna and Christopher I. Amos


Edited Volume and chapters are indexed in

  • Worldcat
  • OpenAIRE
  • Google Scholar
  • AZ ebsco
  • Base
  • CNKI

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