Open access peer-reviewed Edited Volume

Mutations in Human Genetic Disease

Book metrics overview

40,250 Chapter Downloads

View Full Metrics

Academic Editor

David Cooper
David Cooper

Cardiff University,
United Kingdom

Co-editor

Jian-Min Chen
Jian-Min Chen

University of Western Brittany,
France

Published12 October 2012

Doi10.5772/2912

ISBN978-953-51-0790-3

eBook (PDF) ISBN978-953-51-5329-0

Copyright year2012

Number of pages306

Read more
Order Print Copy

Edited Volume and chapters are indexed in

  • Google Scholar
  • DOAB
  • Crossref
  • Dimension
  • OpenAIRE
  • AZ ebsco
  • Worldcat
Show more

Table of Contents

Open access  chapters

1. Missense Mutation in AR-CGD

By M. Yavuz Köker and Hüseyin Avcilar

2,853
2,865
5. Genotype-Phenotype Disturbances of Some Biomarkers in Colorectal Cancer

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

2,602
8. Pathophysiological Roles of Mutations in the Electrogenic Na+-HCO - Cotransporter NBCe1

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

2,457
2,518
4
2,863
1
1,693
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

3,259
1
14. Activating Mutations and Targeted Therapy in Cancer

By Musaffe Tuna and Christopher I. Amos

3,442
2

IMPACT OF THIS BOOK AND ITS CHAPTERS

40,250 Total Chapter Downloads

6,092 Total Chapter Views

22 Crossref Citations

38 Web of Science Citations

62 Dimensions Citations

4 Altmetric Score

Order a print copy of this book

£139 (ex. VAT)*

Hardcover | Printed Full Colour

IntechOpen Contributor? Get your Discount

FREE SHIPPING WORLDWIDE

Order & Delivery info

* Residents of European Union countries need to add a Book Value-Added Tax Rate based on their country of residence. Institutions and companies, registered as VAT taxable entities in their own EU member state, will not pay VAT by providing IntechOpen with their VAT registration number. This is made possible by the EU reverse charge method.

Instructor? Request an Exam Copy