| 概要 |
Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD.
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| 著者 |
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N |
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