Analysis of Triplet Repeat Disorders

by Michael Hayden (Editor), Dr David Rubinsztein (Editor)

Overview

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.

Product Details

ISBN-13:	9781000144703
Publisher:	CRC Press
Publication date:	07/26/2020
Sold by:	Barnes & Noble
Format:	eBook
Pages:	352
File size:	12 MB
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About the Author

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

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.

Editorial 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

From the Publisher