Xue Feng Tianying Wei Junhui Sun Yuqin Luo Yanan Huo Ping Yu Jiao Chen Xiaoming Wei Ming Qi Yinghui Ye
10.1371/journal.pone.0231115
PLoS One
2020 Apr 7;15(4):e0231115.
CC BY
https://pubmed.ncbi.nlm.nih.gov/32255808/
Cyclic GMP / analysis Guanylate Cyclase / genetics Leber Congenital Amaurosis / genetics Receptors, Cell Surface / genetics
Cyclic GMP / analysis Guanylate Cyclase / genetics Leber Congenital Amaurosis / genetics Receptors, Cell Surface / genetics Case Reports Research Support, Non-U.S. Gov't Cell Membrane / metabolism Child, Preschool China Chromatography, High Pressure Liquid Cyclic GMP / metabolism DNA Mutational Analysis Enzyme Assays / methods Female Guanylate Cyclase / metabolism HeLa Cells Heterozygote High-Throughput Nucleotide Sequencing Humans Leber Congenital Amaurosis / diagnosis Male Mutagenesis, Site-Directed Mutation Pedigree Receptors, Cell Surface / metabolism Recombinant Proteins / genetics Recombinant Proteins / metabolism Tandem Mass Spectrometry Receptors, Cell Surface Recombinant Proteins guanylate cyclase 1 Guanylate Cyclase Cyclic GMP Amaurosis congenita of Leber, type 1
PMC7138296
32255808
The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS
2020