Analysis of Triplet Repeat Disorders

Author:   Michael Hayden ,  David Rubinsztein
Publisher:   Taylor & Francis Ltd
ISBN:  

9781859962664


Pages:   352
Publication Date:   15 June 1998
Format:   Hardback
Availability:   In Print   Availability explained
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Analysis of Triplet Repeat Disorders


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Overview

Using the clinical picture of these diseases as a starting point, the book reviews and integrates the current understanding of their molecular pathologies, the genotype-phenotype relationships, the mutational processes of trinucleotide repeats, and the laboratory and clinical issues relating to genetic testing for these disorders.

Full Product Details

Author:   Michael Hayden ,  David Rubinsztein
Publisher:   Taylor & Francis Ltd
Imprint:   Bios Scientific Publishers Ltd
Dimensions:   Width: 15.60cm , Height: 2.00cm , Length: 23.40cm
Weight:   0.793kg
ISBN:  

9781859962664


ISBN 10:   1859962661
Pages:   352
Publication Date:   15 June 1998
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   In Print   Availability explained
This item will be ordered in for you from one of our suppliers. Upon receipt, we will promptly dispatch it out to you. For in store availability, please contact us.

Table of Contents

Foreword. Introduction. The FRAXA fragile site and fragile X syndrome. Molecular studies of the fragile sites FRAXE and FAXF. Myotonic dystrophy. Spinobulbar musculal atrophy. Polyglutamine tract vs protein context in SCA1 pathogenesis. Spinocerebellar ataxia type 2 (SCA2). Spinocerebellar ataxia type 3/Machado Joseph disease. Spinocerebellar ataxia type 6 (SCA6). Spinocerebellar ataxia type 7 (SCA7). Huntingtons disease. Dentatorubral-pallidoluysian atrophy (DRLPA). Friedrich's ataxia. Anticipation, triplet repeats and psychiatric disorders. Trinucleotide repeat mutation processes. Diagnostic testing for trinucleotide repeat diseases. Predictive testing for trinucleotide repeat diseases.

Reviews

'This is the sort of book that can de dipped into to read about a particular subject matter. The volume of the text in this book makes this a managable reference book.' - Cambridge Journals


'This is the sort of book that can de dipped into to read about a particular subject matter. The volume of the text in this book makes this a managable reference book.' - Cambridge Journals


Author Information

D. C. Rubinsztein (University of Cambridge, U.K.) (Volume editor) , M. R. Hayden (University of British Columbia, Vancouver, Canada) (Volume editor)

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