Literature DB >> 19368610

A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene.

X P Wang, J Huo, Y Liu, W J Wang, Q Q Xu, J H Ma, J G An, J M Wang, S X Xiao.   

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Year:  2009        PMID： 19368610     DOI： 10.1111/j.1468-3083.2009.03207.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  3 in total

1.  A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.

Authors:  Linda K Rey; Jürgen Kohlhase; Katrin Möllenhoff; Gabriele Dekomien; Jörg T Epplen; Sabine Hoffjan
Journal:  Mol Syndromol       Date:  2016-03-15

2.  Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.

Authors:  Muhammad Nasir; Amir Latif; Muhammad Ajmal; Reem Qamar; Muhammad Naeem; Abdul Hameed
Journal:  Diagn Pathol       Date:  2011-07-26       Impact factor: 2.644

3.  Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.

Authors:  Rong Zhang; Yang Liu; Yang Xue; Yinan Wang; Xinwen Wang; Songtao Shi; Tao Cai; Qintao Wang
Journal:  J Transl Med       Date:  2014-04-04       Impact factor: 5.531
  3 in total

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