Literature DB >> 23789600

A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.

Ossama Abbas1, Muhammad Farooq, Jinane El Khoury, Abdul-Ghani Kibbi, Hiroki Fujikawa, Atsushi Fujimoto, Yutaka Shimomura, Mazen Kurban.   

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Year:  2013        PMID: 23789600     DOI: 10.1111/ijd.12013

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN: 0011-9059            Impact factor:   2.736


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  1 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
  1 in total

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