نتایج جستجو برای: tgm1gene

تعداد نتایج: 1  

Journal: :iranian journal of child neurology 0
abolfazl faraji genetic technician, special medical center, genetic diagnostic laboratory, tehran, iran maryam mobaraki genetic technician, special medical center, genetic diagnostic laboratory, tehran, iran amirreza yazdi resident of dermatology, special medical center, genetic diagnostic laboratory,tehran, iran seyyed mohammad seyyed hassani . genetic counselor, yazd genetic center, tehran, iran omid aryani genetic counselor, special medical center, genetic diagnostic laboratory, tehran, iran massoud houshmand assistant professor of human genetics, department of medical genetics, national institute of genetic engineering and biotechnology (nigeb), tehran, iran

objective autosomal recessive congenital ichthyosis (arci) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (li) and nonbullous congenital ichthyosi-formis erythroderma (ncie). lamellar ichtyosis is caused by mutations in the tgm1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the...

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