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).
目的：探讨我国多发性骨骺发育不良患者中软骨寡聚物基质蛋白（COMP）基因的突变情况。
Objective: Our aim was to study the characteristics of mutation of cartilage oligomeric matrix protein (COMP) gene in Chinese patients with multiple epiphyseal dysplasia( MED).
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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