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- W2607699221 abstract "The purpose of this chapter is to summarize the evidence on the correlations between the clinical features of Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD) and the causative genes and to present the clinical characteristics of representative cases for each causative gene. Twenty-five genes are known causes of LCA/EORD: GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, NMNAT1, CEP290, IMPDH1, RD3, RDH12, LRAT, TULP1, KCNJ13, GDF6, PRPH2, OTX2, IQCB1, IFT140, PNPLA6, PEX1, CABP4, and MERTK. Among these, the genes found in Japanese patients are GUCY2D, RPE65, RPGRIP1, CRX, CRB1, NMNAT1, IMPDH1, and RDH12. Most mutations discovered in Japanese patients have not been reported in other ethnic populations. Moreover, recent publications on genetic investigations in large cohort of Chinese patients with LCA/EORD revealed genetic characteristics different from those of the European/American populations. These results suggest that further genetic investigations on Japanese/Asian populations are needed." @default.
- W2607699221 created "2017-05-05" @default.
- W2607699221 creator A5003099349 @default.
- W2607699221 creator A5067199915 @default.
- W2607699221 date "2017-01-01" @default.
- W2607699221 modified "2023-09-25" @default.
- W2607699221 title "Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population" @default.
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