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

Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, LĂ©veillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A
Hum Mol Genet. 2014 23 (21): 5827-37

PMID: 24899048 · PMCID: PMC4189898 · DOI:10.1093/hmg/ddu276

MeSH Terms (26)

Adult Aged Amino Acid Sequence Bruch Membrane DNA Mutational Analysis Exome Extracellular Matrix Fibrillin-2 Fibrillins Genetic Association Studies Genetic Variation High-Throughput Nucleotide Sequencing Humans Macular Degeneration Male Meta-Analysis as Topic Microfilament Proteins Middle Aged Models, Molecular Molecular Sequence Data Mutation Pedigree Protein Conformation Protein Stability Retina Sequence Alignment

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