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Li, V. ECM1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5239 (accessed on 22 September 2026).
Li V. ECM1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5239. Accessed September 22, 2026.
Li, Vivi. "ECM1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5239 (accessed September 22, 2026).
Li, V. (2020, December 24). ECM1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5239
Li, Vivi. "ECM1 Gene." Encyclopedia. Web. 24 December, 2020.
ECM1 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ecm1

Extracellular matrix protein 1

genes

References

  1. Kabre V, Rani S, Pai KM, Kamra S. Lipoid proteinosis: A review with two casereports. Contemp Clin Dent. 2015 Apr-Jun;6(2):233-6. doi:10.4103/0976-237X.156053.
  2. Mcgrath JA. Lipoid proteinosis. Handb Clin Neurol. 2015;132:317-22. doi:10.1016/B978-0-444-62702-5.00023-8. Review.
  3. Mondejar R, Garcia-Moreno JM, Rubio R, Solano F, Delgado M, Garcia-Bravo B,Rios-Martin JJ, Martinez-Mir A, Lucas M. Clinical and molecular study of theextracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. J Clin Neurol. 2014 Jan;10(1):64-8. doi: 10.3988/jcn.2014.10.1.64.
  4. Nasir M, Latif A, Ajmal M, Qamar R, Naeem M, Hameed A. Molecular analysis oflipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. Diagn Pathol. 2011 Jul 26;6:69. doi:10.1186/1746-1596-6-69.
  5. Nasir M, Rahman SB, Sieber CM, Mir A, Latif A, Ahmad N, Malik SA, Hameed A.Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistanifamilies suffering from lipoid proteinosis. Mol Biol Rep. 2014;41(4):2085-92.doi: 10.1007/s11033-014-3057-1.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 1.3K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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