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Article

AMD-Associated HTRA1 Variants Do Not Influence TGF-β Signaling in Microglia.

Advances in experimental medicine and biology - 1 Jan 2019

Akhtar-Schaefer Isha, Reuten Raphael, Koch Manuel, Pietsch Markus, Langmann Thomas

Abstract excerpt

Genetic variants of high-temperature requirement A serine peptidase 1 (HTRA1) and age-related maculopathy susceptibility 2 (ARMS2) are associated with age-related macular degeneration (AMD). One HTRA1 single nucleotide polymorphism (SNP) is situated in the promotor region (rs11200638) resulting in increased expression, while two synonymous SNPs are located in exon 1 (rs1049331:C > T, rs2293870:G > T). HtrA1 is...

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PMID: 31884580
DOI: 10.1007/978-3-030-27378-1_1

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