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Autosomal recessive spinal muscular atrophy (SMA) is a common motor neuron disease caused by absence or mutation in the survival motor neuron (SMN1) gene. SNM1 and a nearly identical copy, SMN2, encode identical proteins, but SMN2 only produces a little full length protein due to alternative splicing. The level of functional SMN protein and the number of(More)
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder which presents with various clinical phenotypes ranging from severe to very mild. All forms are caused by the homozygous absence of the survival motor neuron ( SMN1 ) gene. SMN1 and a nearly identical copy ( SMN2 ) are located in a duplicated region at 5q13 and encode(More)
Predictive medicine offers the possibility of detecting many common diseases that have a genetic basis, such as cancer; however, a genetic alteration might only indicate susceptibility to, not certainty of, disease. Whereas means for identifying a greater susceptibility to disease have been developed, effective interventions have progressed much more(More)
Cardiologists fmd it hard to fully comprehend the results achieved by automatic systems, since they generally resort to different knowledge from numerical techniques used by these systems to build descriptions of ECG tracing. To bridge this gap an automatic system is being realized which sets up high level descriptions of the ECG, based on its medical shape(More)
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