Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference5 articles.
1. Lipoidosis cutis et mucosae;Urbach;Virchows Arch,1929
2. Lipoid proteinosis;Hamada;Clin Exp Dermatol,2002
3. The human extracellular matrix gene 1 (ECM1): Genomic structure, cDNA cloning, expression pattern, and chromosomal localization;Smits;Genomics,1997
4. A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis;Horev;Exp Dermatol,2005
5. Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis;Mondejar;J Clin Neurol,2014
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis;Indian Journal of Dermatology;2019
2. Novel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis;Dermatologica Sinica;2019
3. Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2018-10
4. Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene;Molecular Medicine Reports;2018-04-24
5. Lipoid proteinosis;BMJ Case Reports;2017-10-20
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