A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2011.04153.x/fullpdf
Reference10 articles.
1. Lipoidosis cutis et mucosae;Urbach;Virchows Arch A Pathol Pathol Anat,1929
2. Lipoid proteinosis;Hamada;Clin Exp Dermatol,2002
3. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1);Hamada;Hum Mol Genet,2002
4. Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin;Sercu;J Invest Dermatol,2008
5. New compound heterozygous mutations in a Chinese family with lipoid proteinosis;Wang;Br J Dermatol,2006
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1. Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families;Pediatric Dermatology;2022-08-04
2. A Six-Gene Prognostic Risk Prediction Model In Hepatitis B Virus-Associated Hepatocellular Carcinoma;Clinical and Investigative Medicine;2021-10-03
3. Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach–Wiethe disease);Journal of the European Academy of Dermatology and Venereology;2019-08
4. Novel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis;Dermatologica Sinica;2019
5. A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report;SAGE Open Medical Case Reports;2019-01
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