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Article

Rapid and sensitive method for detection of Y402, H402, I62, and V62 variants of complement factor H in human plasma samples using mass spectrometry.

Investigative ophthalmology & visual science - 1 Apr 2009

Kelly Una, Rickman Catherine Bowes, Postel Eric A, Hauser Michael A, Hageman Gregory S, Arshavsky Vadim Y, Skiba Nikolai P

Abstract excerpt

PURPOSE: Variations in the complement factor H (CFH) gene are tightly associated with age-related macular degeneration (AMD) across diverse populations. Of the many nonsynonymous coding variants in CFH, two are most strongly associated with increased risk of AMD: isoleucine 62 to valine (I62V) and tyrosine 402 to histidine (Y402H). Detection of these variations in a patient's blood is important for a risk...

Topics

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Chromatography, Affinity
Complement Factor H
Electrophoresis, Polyacrylamide Gel
CFH gene
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peptide Fragments

Polymorphism, Single Nucleotide

Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

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Open in PubMed Open full text

Identifiers

PMID: 19029036
DOI: 10.1167/iovs.08-2782
PMCID: PMC2808136

Genes

CFH

Variants

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Rapid and sensitive method for detection of Y402, H402, I62, and V62 variants of complement factor H in human plasma samples using mass spectrometry.PMID 19029036Read ↗

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