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HTRA1 (high temperature requirement A serine peptidase 1) gene is transcriptionally regulated by insertion/deletion nucleotides located at the 3' end of the ARMS2 (age-related maculopathy susceptibility 2) gene in patients with age-related macular degeneration.
Iejima D, Itabashi T, Kawamura Y, Noda T, Yuasa S, Fukuda K, Oka C, Iwata T. Iejima D, et al. Among authors: itabashi t. J Biol Chem. 2015 Jan 30;290(5):2784-97. doi: 10.1074/jbc.M114.593384. Epub 2014 Dec 17. J Biol Chem. 2015. PMID: 25519903 Free PMC article.
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Akahori M, et al. Among authors: itabashi t. Am J Hum Genet. 2010 Sep 10;87(3):424-9. doi: 10.1016/j.ajhg.2010.08.009. Am J Hum Genet. 2010. PMID: 20826268 Free PMC article.
173 results