Analysis of Triplet Repeat Disorders
Published on 15. June 1998
Book
Hardback
352 pages
978-1-85996-266-4 (ISBN)
Description
Analysis of Triplet Repeat Disorders is aimed at clinicians and scientists who work with these diseases or who have an interest in the field. 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.
Reviews / Votes
'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 JournalsMore details
Language
English
Place of publication
London
United Kingdom
Publishing group
Taylor & Francis Ltd
Target group
Professional and scholarly
Dimensions
Height: 240 mm
Width: 161 mm
Thickness: 23 mm
Weight
687 gr
ISBN-13
978-1-85996-266-4 (9781859962664)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions
Michael Hayden | David Rubinsztein
Analysis of Triplet Repeat Disorders
E-Book
07/2020
1st Edition
Taylor & Francis
€264.99
Available for download
Michael Hayden | David Rubinsztein
Analysis of Triplet Repeat Disorders
E-Book
07/2020
1st Edition
Taylor & Francis
€264.99
Available for download
Persons
D. C. Rubinsztein (University of Cambridge, U.K.) (Volume editor) , M. R. Hayden (University of British Columbia, Vancouver, Canada) (Volume editor)
Content
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.