目的研究类脂质蛋白沉积症一家系的细胞外基质蛋白1 (ECM1)基因突变。
Objective To study mutations in the extracellular matrix protein 1 (ECM1) gene in a family with lipoid proteinosis (LP).
结论本类脂质蛋白沉积症家系存在新的ECM 1基因突变位点。
Conclusion a new compound heterozygous mutation of ECM1 gene was identified in this LP family.
方法采用DNA双向测序法直接检测类脂质蛋白沉积症一家系中患者及其父母、同胞、子女的ECM1基因。
Methods Bi-directional DNA sequencing was used to detect the ECM1 gene in patients with LP as well as among their parents, siblings and children.
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