Analysis of Triplet Repeat Disorders (eBook, ePUB)

Redaktion: Hayden, Michael; Rubinsztein, David

• Format: ePub

Produktbeschreibung

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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Produktdetails

• Verlag: Taylor & Francis
• Seitenzahl: 352
• Erscheinungstermin: 26. Juli 2020
• Englisch
• ISBN-13: 9781000144703
• Artikelnr.: 59826579

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.