In the first project functional studies in a new gene (TGS1) possible involved in Spinal Muscular Atrophy pathogenesis were performed, while the second part of the thesis is about molecular diagnosis in the two most common forms of Limb Girdle Muscular Dystrophy Type 2
The functional consequence of TGS1 mutations and the interaction with Survival of Motor Neuron protein Molecular diagnosis of the most common forms of Limb Girdle Muscular Dystrophy with autosomal recessive inheritance / Sara Aguti. - (2018).
The functional consequence of TGS1 mutations and the interaction with Survival of Motor Neuron protein Molecular diagnosis of the most common forms of Limb Girdle Muscular Dystrophy with autosomal recessive inheritance
AGUTI, SARA
2018
Abstract
In the first project functional studies in a new gene (TGS1) possible involved in Spinal Muscular Atrophy pathogenesis were performed, while the second part of the thesis is about molecular diagnosis in the two most common forms of Limb Girdle Muscular Dystrophy Type 2
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