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OverviewUsing 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 DetailsAuthor: Michael Hayden , David RubinszteinPublisher: Taylor & Francis Ltd Imprint: Bios Scientific Publishers Ltd Dimensions: Width: 15.60cm , Height: 2.00cm , Length: 23.40cm Weight: 0.793kg ISBN: 9781859962664ISBN 10: 1859962661 Pages: 352 Publication Date: 15 June 1998 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: In Print ![]() 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 ContentsForeword. 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 InformationD. C. Rubinsztein (University of Cambridge, U.K.) (Volume editor) , M. R. Hayden (University of British Columbia, Vancouver, Canada) (Volume editor) Tab Content 6Author Website:Countries AvailableAll regions |