Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis-Reference-Cited by-同舟云学术

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Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis

Published:2014-01-12 Issue:4 Volume:41 Page:2085-2092
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Nasir Muhammad,Rahman Simeen Ber,Sieber Christian M. K.,Mir Asif,Latif Amir,Ahmad Nafees,Malik Salman Akbar,Hameed Abdul

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-014-3057-1.pdf

Reference32 articles.

1. Urbach E, Wiethe C (1929) Lipoidosis cutis et mucosae. Virchows Arch 273:285–319

2. Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA (2002) Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 11(7):833–840

3. Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, McGrath JA, Ramsay M (2004) Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 151(2):413–423. doi: 10.1111/j.1365-2133.2004.06076.x

4. Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA (2007) The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 16(11):881–890. doi: 10.1111/j.1600-0625.2007.00608.x

5. Hamada T (2002) Lipoid proteinosis. Clin Exp Dermatol 27(8):624–629

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lipoid proteinosis: A clinical and molecular study in Egyptian patients;Gene;2017-09

2. The Extracellular Matrix Protein 1 (ECM1) in Molecular-Based Skin Biology;Textbook of Aging Skin;2016-09-29

3. Production and characterization of domain-specific monoclonal antibodies against human ECM1;Protein Expression and Purification;2016-05

4. The Extracellular Matrix Protein 1 (ECM1) in Molecular-Based Skin Biology;Textbook of Aging Skin;2015

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