The pathogenicity of novel GUCY2D mutations in Leber...

PLoS ONE 2020 / 4 Vol. 15; Iss. 4

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Feng, Xue, Wei, Tianying, Sun, Junhui, Luo, Yuqin, Huo, Yanan, Yu, Ping, Chen, Jiao, Wei, Xiaoming, Qi, Ming, Ye, Yinghui, Koch, Karl-Wilhelm
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Volume:
15
Journal:
PLOS ONE
DOI:
10.1371/journal.pone.0231115
Date:
April, 2020
File:
PDF, 1.34 MB
2020
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