Lv1
90 积分 2024-05-28 加入
[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency]
1个月前
已完结
Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
1个月前
已关闭
beta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors [letter]
2个月前
已关闭
A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family
2个月前
已关闭
[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia]
4个月前
已完结
[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease]
4个月前
已完结
Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement
4个月前
已关闭
Identification of deleterious variants in nine polycystic kidney disease affected families
6个月前
已完结
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing
7个月前
已完结
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