Article
Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.
The Journal of molecular diagnostics : JMD - 1 Jun 2020
Lopes Sara M, Faro Rosário, Lopes Miguel M, Onofre Isabel, Mendonça Nuno, Ribeiro Joana, Januário Cristina, Nobre Rui Jorge, Pereira de Almeida Luís
Abstract excerpt
Polyglutamine spinocerebellar ataxias (SCAs) constitute a group of autosomal dominantly inherited neurodegenerative disorders with considerable phenotypic overlap. Definitive diagnoses rely on the detection of a mutation in each associated locus, comprising the abnormal expansion of the trinucleotide cytosine-adenine-guanine (CAG) in coding exons. Assessment of single nucleotide polymorphisms associated with the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.