Analysis of Triplet Repeat Disorders

Herausgeber: Hayden, Michael; Rubinsztein

• Gebundenes Buch

Produktbeschreibung

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

Produktdetails

• Verlag: Taylor & Francis Ltd (Sales)
• Seitenzahl: 352
• Erscheinungstermin: 15. Juni 1998
• Englisch
• Abmessung: 234mm x 156mm x 21mm
• Gewicht: 662g
• ISBN-13: 9781859962664
• ISBN-10: 1859962661
• Artikelnr.: 22202499

Autorenporträt

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

Inhaltsangabe

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.