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

BACKGROUND: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along...

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Hlavní autoři: Samdani, Azam J, Azhar, Abid, Shahid, Syed M, Nawab, Syeda N, Shaikh, Rozeena, Qader, Shah A, Mansoor, Qaisar, Khoso, Bahram K, Ismail, Muhammad
Médium: Artigo
Jazyk:Inglês
Vydáno: Specjalisci Dermatolodzy 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3157823/
https://ncbi.nlm.nih.gov/pubmed/21886756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2010.1056
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