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5q13

A chromosome band present on 5q
National Institutes of Health

Related topics

Related topics

6 relations
ChromosomesF2R wt AllelePOLK wt AlleleRAD17 wt Allele
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Papers overview

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Highly Cited
2001
Highly Cited
2001
Familial Thoracic Aortic Aneurysms and Dissections: Genetic Heterogeneity With a Major Locus Mapping to 5q13-14
Background—Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media… Expand
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Review
2000
Review
2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
  • B. Wirth
  • Human mutation
  • 2000
    • Corpus ID: 21805848
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness… Expand
Highly Cited
1998
Highly Cited
1998
SMN oligomerization defect correlates with spinal muscular atrophy severity
Spinal muscular atrophy (SMA) is a motor-neuron disorder resulting from anterior-horn–cell death. The autosomal recessive form… Expand
Highly Cited
1997
Highly Cited
1997
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.
Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness… Expand
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Highly Cited
1996
Highly Cited
1996
A novel nuclear structure containing the survival of motor neurons protein.
Spinal muscular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and… Expand
Highly Cited
1995
Highly Cited
1995
Identification and characterization of a spinal muscular atrophy-determining gene
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons… Expand
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Highly Cited
1995
Highly Cited
1995
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
Proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of… Expand
Highly Cited
1995
Highly Cited
1995
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence… Expand
Highly Cited
1994
Highly Cited
1994
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis… Expand
Review
1993
Review
1993
Cytogenetic deletion maps of hematologic neoplasms: Circumstantial evidence for tumor suppressor Loci
Research in oncogenetics has led to the identification of two major classes of tumor‐associated genes, oncogenes and tumor… Expand
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