Proteomics-based identification and characterisation of spinal muscular atrophy disease pathways
(2020)
Thesis
Šoltić, D. (2020). Proteomics-based identification and characterisation of spinal muscular atrophy disease pathways. (Thesis). Keele University
Spinal muscular atrophy (SMA) is a debilitating genetic disorder, characterised by homozygous loss of the survival of motor neuron 1 (SMN1) gene, resulting in insufficient levels of ubiquitously expressed survival of motor neuron (SMN) protein. The t... Read More about Proteomics-based identification and characterisation of spinal muscular atrophy disease pathways.