Condition: LATE-ONSET RETINAL DEGENERATION (disorder)
rs111033578 in
MFRP;C1QTNF5 gene and
LATE-ONSET RETINAL DEGENERATION (disorder)
PMID 22892318 2012 Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.
PMID 12944416 2003 Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals.