StoneRounds Case SR1344 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: RP1.

DataCite Commons2024-10-04 更新190

Mutations in glpT of ten randomly chosen spontaneous mutants of P. aeruginosa PA14 selected from in vitro and in vivo experiments.

基因突变分析

功能基因组学

Mutants were arranged according to the nucleotide position using the A of the ATG of the ORF as reference.

Figshare2015-12-02 更新40

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

遗传性角膜疾病

基因突变分析

Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids,

NIAID Data Ecosystem10

StoneRounds Case: SR86

资源简介：

StoneRounds Case: SR86

资源简介：

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