Analysis of triplet repeat disorders. (2020)

• Record Type: Book
• Further Information: Note: Edited by David Rubinsztein and Michael Hayden.
• Editors: Rubinsztein, D. C (David C.); Hayden, Michael R
• Contents: 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.
• Edition: 1st
• Publisher Details: New York : Garland Science
• Publication Date: 2020
• Extent: 1 online resource
• Subjects: 611.01816; Human molecular genetics
• Languages: English
• ISBNs: 9781000144703
• Related ISBNs: 9781000102390; 9781000119565; 9781003076933
• Notes: Note: Description based on CIP data; resource not viewed.
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.