Huntington’s Disease: Progress towards a Cure 1. Introduction Expansions of the CAG repeat in the HTT gene can lead to a range of Huntington’s disease-like ...
Sickle Cell Disease Pathology 1. Introduction to Sickle Cell Disease S/β-thalasemia (compound heterozygote for a β0-thalassemia with HbS) is a very ...
The impact of Duchenne Muscular Dystrophy on muscle cells. 1. Introduction The role Dystrophin plays in preserving the mechanical integrity of contracting ...
Genetic Mutations in Fragile X Syndrome 1. Introduction to Fragile X Syndrome All together, the FMR1 transcript has 17 exons, and the FMR1 protein is ...
Tay-Sachs Disease: Causes and Treatments 1. Introduction Phonetic disorders, including apraxia (the inability to coordinate the movements of lips, ...