Genotypic analysis of patients with p.Gln319Ter mutation

Name: Genotypic analysis of patients with p.Gln319Ter mutation
Creator: Fanis, Pavlos; Skordis, Nicos; Toumba, Meropi; Neocleous, Vassos; Tanteles, George A.; Picolos, Michalis; A. Phylactou, Leonidas
Published: 2023-04-25T00:00:00+08:00

Figshare2023-04-25 更新2026-04-08 收录

遗传病基因诊断

CYP21A2突变分析

数据链接：

https://figshare.com/articles/dataset/Genotypic_analysis_of_patients_with_p_Gln319Ter_mutation/22689625/1 数据链接链接失效反馈

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资源简介：

Sanger Sequencing, MLPA results and genotypic analysis of the samples carrying the p.Gln319Ter mutation. For each case, the copy number of the CYP21A2 gene and CYP21A1P pseudogene is indicated. Data are included in the manuscript submitted in Frontiers in Endocrinology Journal, Manuscript ID: 1156616

提供机构：

Fanis, Pavlos; Skordis, Nicos; Toumba, Meropi; Neocleous, Vassos; Tanteles, George A.; Picolos, Michalis; A. Phylactou, Leonidas

创建时间：

2023-04-25