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1 Ergebnisse
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A novel pathogenic splicing mutation of RPGR in a Chinese f..:
Hui-Qin Wang
;
Pei-Kuan Cong
;
Tian He
..
http://ies.ijo.cn/en_publish/2023/10/20231006.pdf. , 2023
Link:
https://doi.org/10.18240/ijo.2023.10.06
RT Journal T1
A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:fda00ba7f8c640b4bcdb5e6e1134388f&Exemplar=1&LAN=DE A1 Hui-Qin Wang A1 Pei-Kuan Cong A1 Tian He A1 Xiao-Feng Yu A1 Ya-Nan Huo PB Press of International Journal of Ophthalmology (IJO PRESS) YR 2023 K1 retinitis pigmentosa K1 x-linked inheritance K1 rpgr K1 splicing mutation K1 pspl3 minigene assay K1 Ophthalmology K1 RE1-994 JF http://ies.ijo.cn/en_publish/2023/10/20231006.pdf LK http://dx.doi.org/https://doi.org/10.18240/ijo.2023.10.06 DO https://doi.org/10.18240/ijo.2023.10.06 SF ELIB - SuUB Bremen
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