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5q13.2 heterozygous deletion (SMN1/SMN2) verified by MLPA

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Figshare2021-07-09 更新2026-04-28 收录
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Capillary electrophoresis pattern of a proband A, proband B and their mother (1x SMN1; 1x SMN2) analysed with SALSA MLPA probemix P060 SMA Carrier. The approximately 50% decrease of peaks SMN1-7 (SMN1, exon 7), SMN1-8 (SMN1, exon 8), SMN2-7 (SMN2, exon7), SMN2-8 (SMN2, exon 8) was detected.Capillary electrophoresis pattern of negative control is attached.

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2021-07-09
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