5q13.2 heterozygous deletion (SMN1/SMN2) verified by MLPA
收藏Figshare2021-07-09 更新2026-04-08 收录
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https://figshare.com/articles/dataset/5q13_2_heterozygous_deletion_SMN1_SMN2_verified_by_MLPA/14423438/1
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资源简介：
Capillary electrophoresis pattern of a proband A, proband B and their mother (1x <i>SMN1</i>; 1x <i>SMN2)</i> analysed with SALSA MLPA probemix P060 SMA Carrier. The approximately 50% decrease of peaks SMN1-7 (<i>SMN1</i>, exon 7), SMN1-8 (<i>SMN1,</i> exon 8), SMN2-7 (<i>SMN2,</i> exon7), SMN2-8 (<i>SMN2</i>, exon 8) was detected.Capillary electrophoresis pattern of negative control is attached.
提供机构：
Wayhelova, Marketa
创建时间：
2021-07-09
