Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis

Izadi Farzad; Mahjoubi Frouzandeh; Farhadi Mohammad; Kalayinia Samira; Bidmeshkipour Ali; Tavakoli Mohammad Moein; Samanian Sara

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Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis

机译：伊朗9个类脂蛋白病家庭的细胞外基质蛋白1基因（ECM1）突变

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Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis). Mutations in the ECM1 gene on 1q21.2 are responsible for this disease. This study was conducted to investigate the mutation spectrum of ECM1 gene in nine Iranian families having at least one LP patient diagnosed clinically.

机译：背景与目的：类脂蛋白病（LP）是一种常染色体隐性疾病。该疾病的临床特征是声音嘶哑，皮肤疤痕，脑钙化和眼睑丘疹（单眼睑缘性睑缘炎）。 1q21.2上ECM1基因的突变是造成这种疾病的原因。这项研究的目的是调查9个伊朗家庭中ECM1基因的突变谱，这些家庭至少有1名经临床诊断的LP患者。

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来源
《The Indian journal of medical research.》 |2016年第1期|共5页
作者
Izadi Farzad; Mahjoubi Frouzandeh; Farhadi Mohammad; Kalayinia Samira; Bidmeshkipour Ali; Tavakoli Mohammad Moein; Samanian Sara;
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正文语种 eng
中图分类医药、卫生;
关键词
Disease; ECM1gene; lipoid proteinosis; mutation; pathogenic; sequencing;

机译：疾病;ECM1基因;类脂蛋白沉着症;突变;致病性;测序;

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1. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis [J] . Izadi Farzad, Mahjoubi Frouzandeh, Farhadi Mohammad, The Indian journal of medical research. . 2016,第1期

机译：伊朗9个类脂蛋白病家庭的细胞外基质蛋白1基因（ECM1）突变
2. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis [J] . Izadi Farzad, Mahjoubi Frouzandeh, Farhadi Mohammad, The Indian journal of medical research. . 2016,第3期

机译：细胞外基质1基因（ECM1）含有脂质蛋白病的九个伊朗家族中的突变
3. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. [J] . Hamada T, Wessagowit V, South AP, The Journal of investigative dermatology. . 2003,第3期

机译：细胞外基质蛋白1基因（ECM1）突变在类脂蛋白沉积症和基因型-表型的相关性。
4. UPREGULAT1ON OF THE EXTRACELLULAR MATRIX REMODELING GENES, BIGLYCAN, NEUTROPHIL GELATINASE-ASSOCIATED LiPOCALIN AND MATRIX METALLOPROTEINASE-9 IN FAMILIAL AMYLOID POLYNEUROPATHY [C] . M. M. Sousa, J.B. Amaral, A. Guimaraes, International Symposium on Amyloidosis . 2005

机译：细胞外基质重塑基因的Upregulat1on，大氟化甘油，中性粒细胞明胶酶相关的脂素和基质金属蛋白酶-9在家族性淀粉样蛋白多肺病
5. Adsorption of Extracellular Matrix Proteins and DNA to Microporous PLGA Scaffolds to Improve Pancreatic Islet Transplantation and in vivo Gene Delivery [D] . Salvay, David Marshall 2011

机译：细胞外基质蛋白和DNA吸附到微孔PLGA支架上，以改善胰岛移植和体内基因传递。
6. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis [O] . Farzad Izadi, Frouzandeh Mahjoubi, Mohammad Farhadi, 2016

机译：伊朗9个类脂蛋白病家庭的细胞外基质蛋白1基因（ECM1）突变
7. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis [O] . Farzad Izadi, Frouzandeh Mahjoubi, Mohammad Farhadi, 2016

机译：细胞外基质蛋白1基因（ECm1）突变在9个伊朗家族患有脂质蛋白沉积症

Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis

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