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Analysis of Triplet Repeat Disorders

Editat de Michael Hayden, Dr David Rubinsztein
en Limba Engleză Hardback – 15 iun 1998
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.
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Specificații

ISBN-13: 9781859962664
ISBN-10: 1859962661
Pagini: 352
Dimensiuni: 156 x 234 x 21 mm
Greutate: 0.79 kg
Ediția:1
Editura: CRC Press
Colecția Garland Science

Recenzii

'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

Cuprins

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.

Notă biografică

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

Descriere

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