Article
Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1.
Molecular and cellular biology - 1 May 2013
Jacobo Sarah Melissa P, Deangelis Margaret M, Kim Ivana K, Kazlauskas Andrius
Abstract excerpt
Synonymous single nucleotide polymorphisms (SNPs) within a transcript's coding region produce no change in the amino acid sequence of the protein product and are therefore intuitively assumed to have a neutral effect on protein function. We report that two common variants of high-temperature requirement A1 (HTRA1) that increase the inherited risk of neovascular age-related macular degeneration (NvAMD) harbor...
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