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: ishiura h.
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.