![]() ![]() ![]() SMN2 copy number inversely correlates with disease severity. In humans, a nearly identical gene, SMN2, rescues an otherwise lethal phenotype by producing a small amount of full-length SMN protein. ![]() The gene product, SMN protein, functions in RNA biosynthesis in all tissues. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (Bfor SMA clinical study.ĭirectory of Open Access Journals (Sweden)įull Text Available Spinal Muscular Atrophy ( SMA is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1 gene. ![]()
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