article_metadata: Xue Feng Tianying Wei Junhui Sun Yuqin Luo Yanan Huo Ping Yu Jiao Chen Xiaoming Wei Ming Qi Yinghui Ye
article_metadata: 10.1371/journal.pone.0231115
article_metadata: PLoS One
article_metadata: 2020 Apr 7;15(4):e0231115.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32255808/
article_metadata: Cyclic GMP / analysis Guanylate Cyclase / genetics Leber Congenital Amaurosis / genetics Receptors, Cell Surface / genetics
article_metadata: 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
article_metadata: PMC7138296
article_metadata: 32255808
article_metadata: The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS
article_metadata: 2020