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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2004-11-23
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pubmed:abstractText |
Sequence variations with biologic effect in ALS have been identified in the gene for vascular endothelial growth factor (VEGF). The gene for a related protein, angiogenin, lies on chromosome 14q11.2. Analysis of the angiogenin (ANG) gene in the authors' population has demonstrated a significant allelic association with the rs11701 single nucleotide polymorphism (SNP) and identified a novel mutation in two individuals with sporadic ALS that potentially inhibits angiogenin function. These observations propose a candidate region for ALS on chromosome 14q11.2 and suggest that other genes with similar function to VEGF may be important in the pathogenesis of ALS.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
23
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1936-8
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pubmed:dateRevised |
2011-7-19
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pubmed:meshHeading |
pubmed-meshheading:15557516-Aged,
pubmed-meshheading:15557516-Alleles,
pubmed-meshheading:15557516-Amino Acid Substitution,
pubmed-meshheading:15557516-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:15557516-Chromosome Mapping,
pubmed-meshheading:15557516-Chromosomes, Human, Pair 14,
pubmed-meshheading:15557516-Codon,
pubmed-meshheading:15557516-Cohort Studies,
pubmed-meshheading:15557516-DNA-(Apurinic or Apyrimidinic Site) Lyase,
pubmed-meshheading:15557516-Female,
pubmed-meshheading:15557516-Gene Frequency,
pubmed-meshheading:15557516-Genetic Predisposition to Disease,
pubmed-meshheading:15557516-Humans,
pubmed-meshheading:15557516-Ireland,
pubmed-meshheading:15557516-Male,
pubmed-meshheading:15557516-Middle Aged,
pubmed-meshheading:15557516-Mutation, Missense,
pubmed-meshheading:15557516-Point Mutation,
pubmed-meshheading:15557516-Polymerase Chain Reaction,
pubmed-meshheading:15557516-Polymorphism, Single Nucleotide,
pubmed-meshheading:15557516-Ribonuclease, Pancreatic,
pubmed-meshheading:15557516-Vascular Endothelial Growth Factor A
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pubmed:year |
2004
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pubmed:articleTitle |
A novel candidate region for ALS on chromosome 14q11.2.
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pubmed:affiliation |
Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland. mattgreenway@rcsi.ie
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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