Technical Brief: A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients

Molecular Vision

Volumn 10, Issue , 2004, Pages 682-687

  McKay, Gareth J ^a   Clarke, Stephen ^a   Hughes, Anne ^a   McConnell, Vivienne ^a   Schultz, Dennis W ^b   Klein, Michael L ^b   Silvestri, Giuliana ^a   Simpson, David A C ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FLUORESCENT DYE; GLUTAMINE; HEMICENTIN; UNCLASSIFIED DRUG; VISUAL PROTEINS AND PIGMENTS; HEMICENTIN 1 PROTEIN, HUMAN; HEMICENTIN-1 PROTEIN, HUMAN; PRIMER DNA; SCLEROPROTEIN;

AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; EXON; FLUORESCENCE ANALYSIS; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HIGH THROUGHPUT SCREENING; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELIABILITY; RETINA MACULA AGE RELATED DEGENERATION; SEQUENCE ANALYSIS; VISUAL SYSTEM EXAMINATION; WILD TYPE; DNA PROBE; GENETICS; METHODOLOGY; MOLECULAR GENETICS; MUTATION; RETINA MACULA DEGENERATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGED; AGED, 80 AND OVER; ARGININE; BASE SEQUENCE; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA PROBES; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; GLUTAMINE; HUMANS; IRELAND; MACULAR DEGENERATION; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 16544388100     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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