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.
目的：了解中国人群中类脂蛋白沉积症(LP)的临床表型和遗传学特点。
Objective: To explore the clinical and genetic features of lipoid proteinosis (LP) in Chinese population.
前言：目的：报道1例类脂蛋白沉积症家系，并对其家系成员的细胞外基质蛋白1 (ECM1)基因突变进行分析。
Objective: a Chinese family with lipoid proteinosis is reported and glycoprotein extracellular matrix protein 1 (ECM1) was identified.
前言：目的：报道1例类脂蛋白沉积症家系，并对其家系成员的细胞外基质蛋白1 (ECM1)基因突变进行分析。
Objective: a Chinese family with lipoid proteinosis is reported and glycoprotein extracellular matrix protein 1 (ECM1) was identified.
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