Literature DB >> 16882193

New compound heterozygous mutations in a Chinese family with lipoid proteinosis.

C Y Wang1, P Z Zhang, F R Zhang, J Liu, H Q Tian, L Yu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 16882193     DOI： 10.1111/j.1365-2133.2006.07292.x

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


× No keyword cloud information.
  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.  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

3.  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

4.  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.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.