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Oxford Textbook of Medicine$
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Edited by David A. Warrell, Timothy M. Cox, John D. Firth

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Latest update

The May 2013 update sees updates to chapters focusing on Respiratory Medicine and Haematology.

Respiratory Medicine updates include substantial updates to key chapters and new material on a wide range of topics including: new bronchoscopic techniques for early detection of lung cancer, specific causes of effusion and pleural disease, and chronic obstructive pulmonary disease.

Haematology updates include extensive revisions of key chapters on chronic myeloid leukaemia, aplastic anaemia and bone marrow failure disorders, and blood transfusion, with new information on a wide range of matters.

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Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breastfeeding.

Contents

The human genome sequence

Chapter:
The human genome sequence
Author(s):

Sydney Brenner

DOI:
10.1093/med/9780199204854.003.40201

The ability to clone and propagate fragments of DNA, along with technical advances that allow the order of nucleotide bases to be determined, has led to sequencing of the entire human genome. It may be that ultimately this information will lead to the uncovering of numerous targets for therapeutic purposes, but much additional biological and clinical research will be required on gene and protein function in living cells, whole organisms and people.

Single mutations in human genes may be responsible for certain diseases and are thus informative about molecular pathogenesis, but the genetic components of common diseases are proving more difficult to unravel, although there are early signs - for example in diabetes mellitus and Crohn’s disease - that a molecular understanding of pathogenesis in terms of genetic and environmental factors will allow for predictive testing and improved treatments.

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