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Updated: May 2, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
Published on: December 10, 2021
[Delayed diagnosis of juvenile Huntington's diseases: case report]
Luis Enrique Meza Escobar1, Jorge Luis Orozco2, Yuri Takeuchi1
1Centro de Investigación en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
Abstract:
Huntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.
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