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rdf:type |
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lifeskim:mentions |
umls-concept:C0030705,
umls-concept:C0086143,
umls-concept:C0087186,
umls-concept:C0205251,
umls-concept:C0205314,
umls-concept:C0205419,
umls-concept:C0242383,
umls-concept:C0376249,
umls-concept:C0679622,
umls-concept:C1709269,
umls-concept:C1837877
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pubmed:dateCreated |
2004-10-6
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pubmed:databankReference |
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pubmed:abstractText |
Age related macular degeneration (AMD) is a common cause of severe vision loss. Identification of genes involved in AMD will facilitate early detection and ultimately help to identify pathways for treatment for this disorder. The A16,263G mutation in the HEMICENTIN-1 gene produces a non-conservative substitution of arginine for glutamine at codon 5345 which has been implicated in familial AMD. The aim of this study is to develop a rapid diagnostic assay for the detection of this mutation and to evaluate its frequency in a sample of AMD patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
24
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
682-7
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:15467524-Aged,
pubmed-meshheading:15467524-Aged, 80 and over,
pubmed-meshheading:15467524-Arginine,
pubmed-meshheading:15467524-Base Sequence,
pubmed-meshheading:15467524-DNA Mutational Analysis,
pubmed-meshheading:15467524-DNA Primers,
pubmed-meshheading:15467524-DNA Probes,
pubmed-meshheading:15467524-Diagnostic Techniques, Ophthalmological,
pubmed-meshheading:15467524-Extracellular Matrix Proteins,
pubmed-meshheading:15467524-Genotype,
pubmed-meshheading:15467524-Glutamine,
pubmed-meshheading:15467524-Humans,
pubmed-meshheading:15467524-Immunoglobulins,
pubmed-meshheading:15467524-Ireland,
pubmed-meshheading:15467524-Macular Degeneration,
pubmed-meshheading:15467524-Molecular Diagnostic Techniques,
pubmed-meshheading:15467524-Molecular Sequence Data,
pubmed-meshheading:15467524-Mutation,
pubmed-meshheading:15467524-Polymerase Chain Reaction,
pubmed-meshheading:15467524-Polymorphism, Single-Stranded Conformational
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pubmed:year |
2004
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pubmed:articleTitle |
A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.
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pubmed:affiliation |
Department of Ophthalmology and Vision Science, Queen's University of Belfast, Belfast, Northern Ireland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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