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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Journal article   Open access  Peer reviewed

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Rinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, Kari E Branham, David Zipprer, Christina F Chakarova, Yuri V Sergeev, Maria M Campos, Mohammad Othman, James S Friedman, …
Human molecular genetics, Vol.23(21), pp.5827-5837
2014-11-01
PMCID: PMC4189898
PMID: 24899048

Abstract

Meta-Analysis as Topic Retina - metabolism Humans Middle Aged Extracellular Matrix - metabolism Molecular Sequence Data Male Macular Degeneration - diagnosis Exome Genetic Variation DNA Mutational Analysis Adult Microfilament Proteins - metabolism Protein Stability Fibrillin-2 Microfilament Proteins - genetics Amino Acid Sequence Genetic Association Studies Models, Molecular Fibrillins Sequence Alignment Macular Degeneration - genetics Pedigree Protein Conformation Aged High-Throughput Nucleotide Sequencing Mutation Bruch Membrane - metabolism Retina - pathology
url
https://doi.org/10.1093/hmg/ddu276View
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Collaboration types
Domestic collaboration
International collaboration
Citation topics
1 Clinical & Life Sciences
1.36 Ophthalmology
1.36.212 Retina
Web Of Science research areas
Biochemistry & Molecular Biology
Genetics & Heredity
ESI research areas
Molecular Biology & Genetics

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#3 Good Health and Well-Being

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