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SMN1 wt Allele

Known as: SMNT, Survival Motor Neuron 1 Protein Gene, Survival of Motor Neuron, Telomeric Copy Gene 
Human SMN1 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor… Expand
National Institutes of Health

Papers overview

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Review
2012
Review
2012
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and… Expand
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Highly Cited
2012
Highly Cited
2012
Objective: To identify the gene responsible for 14q32-linked dominant spinal muscular atrophy with lower extremity predominance… Expand
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Highly Cited
2007
Highly Cited
2007
We identified an Arabidopsis (Arabidopsis thaliana) mutant, sma4 (symptoms to multiple avr genotypes4), that displays severe… Expand
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Highly Cited
2005
Highly Cited
2005
We compared a set of methods for estimating fractional green vegetation cover (fc) over a ¨4000 km 2 region of central New Mexico… Expand
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Highly Cited
2002
Highly Cited
2002
Alteration of correct splicing patterns by disruption of an exonic splicing enhancer may be a frequent mechanism by which point… Expand
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Highly Cited
2001
Highly Cited
2001
Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by the degeneration of motor neurons in the spinal cord… Expand
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Highly Cited
1999
Highly Cited
1999
Proximal spinal muscular atrophy (SMA) is caused by mutations in the telomeric (SMNT), but not centromeric (SMNC), survival motor… Expand
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Highly Cited
1998
Highly Cited
1998
Childhood-onset autosomal recessive spinal muscular atrophy (SMA) is associated with absence of the telomeric survival motor… Expand
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Highly Cited
1997
Highly Cited
1997
The survival motor neuron (SMN) transcript is encoded by two genes, SMNT and SMNC. The autosomal recessive proximal spinal… Expand
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Highly Cited
1996
Highly Cited
1996
The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12 in a region that contains repeated markers… Expand
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