Titlebook: Neurogenetics; Methods and Protocol Nicholas T. Potter Book 2003 Humana Press 2003

即席演說

永久

Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin GeneRK2, OMIM 602544) worldwide (.–.). The gene on chromosome 6q25.2-27 consists of 12 coding exons with an open reading frame of 1395 bp. The gene is estimated to cover >1.5 Mb. The gene product, Parkin, functions an an E3-ubiquitin-protein ligase (.). The only known substrate to date is CDCrel-1 (.) b

或者發(fā)神韻

Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies mental retardation as its hallmark. Patients with the syndrome often vary dramatically in presentation with a range of intellectual and behavioral deficits, and provide a diagnostic challenge for clinicians due to the subtle nature of the physical phenotype (.,.). Insta bility of a CGG repeat segme

malapropism

Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7pinocerebellar ataxia (SCA) loci have been identified and several of the SCA genes have expansion of a CAG-repeat as the underlying mutation (.,.). Assays that determine the CAG-repeat length in ., and . are used for both diagnostic and predictive testing purposes. Molecular genetic testing is neces

Anthropoid

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