Genetic & Genomic MedicinemedRxivPreprint
Allelic Diversity, de novo CAG Expansions, and Intergenerational Instability at the HTT Locus in a clinical sample of Huntingtons Disease from India
Nikhil Ratna, Sowmya Devatha Venkatesh, Swathi Pasupulati…·Meera Purushottam
The paper analyzes allelic diversity and CAG repeat instability in HD patients from India, finding a strong inverse correlation between repeat length and age at onset, and reporting de novo expansions.
DOI 10.1101/2025.03.03.21260193