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Literature DB >> 25518807

Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.

Ming-Yang Lee¹, Hui-Jun Wang, Ying Han, Yun Zhou, Jia-Hui Zhao, Li-Na Duo, Cheng Feng, Hong Hua, Hong-Wei Liu, Zhi-Miao Lin, Yong Yang.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2015 PMID： 25518807 DOI： 10.2340/00015555-2036

Source DB: PubMed Journal: Acta Derm Venereol ISSN： 0001-5555 Impact factor: 4.437

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1. Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene.

Authors: Dominik Ludew; Katarzyna Wertheim-Tysarowska; Katarzyna Budnik; Alicja Grabarczyk; Cezary Kowalewski; Monika Kapińska-Mrowiecka
Journal: Postepy Dermatol Alergol Date: 2018-04-24 Impact factor: 1.837

1 in total