Analysis of Triplet Repeat Disorders (eBook, PDF)

Redaktion: Hayden, Michael; Rubinsztein, David

• Format: PDF

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 and the mutational processes of trinucleotide repeats.

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Produktdetails

• Verlag: Taylor & Francis
• Seitenzahl: 352
• Erscheinungstermin: 26. Juli 2020
• Englisch
• ISBN-13: 9781000102390
• Artikelnr.: 59826713

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.