Lv1
100 积分 2024-05-28 加入
beta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors [letter]
5天前
已关闭
A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family
5天前
已关闭
[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia]
1个月前
已完结
[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease]
1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
1个月前
已关闭
Identification of deleterious variants in nine polycystic kidney disease affected families
3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
4个月前
已完结
Hb Shenyang (α26(B7) Ala → GLU): A New Unstable Variant Found in China
4个月前
已完结
DESCRIPTION OF A NEW SLOW HEMOGLOBIN IN A CASERTIAN FAMILY (HB CASERTA)
4个月前
已关闭
皖公网安备34019202002308
