Article
A Study of Triplet-Primed PCR for Identification of CAG Repeat Expansion in the HTT Gene in a Cohort of 503 Indian Cases with Huntington's Disease Symptoms.
Molecular diagnosis & therapy - 1 Jun 2018
Chheda Pratiksha, Chanekar Milind, Salunkhe Yogita, Dama Tavisha, Pais Anurita, Pande Shailesh, Bendre Rajesh, Shah Nilesh
Abstract excerpt
BACKGROUND: Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene. Genetic tests that accurately determine the number of CAG repeats are performed for confirmation of diagnosis, predictive testing of persons at genetic risk...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.