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Data underlying the research: Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

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4TU.ResearchData2021-06-07 更新2026-04-23 收录
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https://data.4tu.nl/articles/_/14705859
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Picture №1. Gel of PCR fragments from patient №3. <i>FKBP14</i> gene, exons 1-4. Picture №2. Electropherogram of the exon 3 of the <i>FKBP14</i> gene. A homozygous c.362dupC pathogenic variant in exon 3 of the <i>FKBP14</i> gene.<br>

图1:3号患者的聚合酶链反应(Polymerase Chain Reaction,PCR)片段凝胶电泳图,靶基因为<em>FKBP14</em>基因的第1~4外显子。<br>图2:<em>FKBP14</em>基因第3外显子的电泳色谱图(Electropherogram),该样本存在<em>FKBP14</em>基因第3外显子区域的纯合型c.362dupC致病性变异。
提供机构:
Nailya, Galeeva
创建时间:
2021-06-07
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