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  • Molecular assay reagents intended to identify mutations in the survival of motor neuron 1, telomeric (SMN1) gene, located at chromosome 5q12.2-q13.3, which is part of a 500 kb inverted duplication on chromosome 5q13 that contains at least 4 genes and is prone to rearrangements. The gene encodes for a protein that localizes to both the cytoplasm and the nucleus. This inherited genetic mutation is associated with spinal muscular atrophy (SMA), a continuum range of early-onset (neonatal to young adult) disorders.
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