Literature DB >> 19519837

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.

M Nasir1, A Latif, M Ajmal, M Ismail, A Hameed.   

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Year:  2009        PMID： 19519837     DOI： 10.1111/j.1365-2133.2009.09275.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

1.  Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis.

Authors:  Azam J Samdani; Abid Azhar; Syed M Shahid; Syeda N Nawab; Rozeena Shaikh; Shah A Qader; Qaisar Mansoor; Bahram K Khoso; Muhammad Ismail
Journal:  J Dermatol Case Rep       Date:  2010-12-31

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
  2 in total

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