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5 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 and neurological characterizations of three Saudi families with lipoid proteinosis.

Authors: Mustafa A Salih; Khaled K Abu-Amero; Saleh Alrasheed; Ibrahim A Alorainy; Lu Liu; John A McGrath; Lionel Van Maldergem; Yasser H Al-Faky; Adel H AlSuhaibani; Darren T Oystreck; Thomas M Bosley
Journal: BMC Med Genet Date: 2011-02-24 Impact factor: 2.103

3. 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

4. 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

5. Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis.

Authors: Farzad Izadi; Frouzandeh Mahjoubi; Mohammad Farhadi; Samira Kalayinia; Ali Bidmeshkipour; Mohammad Moein Tavakoli; Sara Samanian
Journal: Indian J Med Res Date: 2016-03 Impact factor: 2.375

5 in total