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Acta Medica Iranica، جلد ۵۶، شماره ۷، صفحات ۴۷۴-۴۷۷
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چکیده فارسی مقاله
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عنوان انگلیسی Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis
چکیده انگلیسی مقاله Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of skin scars. We studied two LP patients. Clinical and genetic examination and genetic counseling were carried out, and their family pedigree was drawn. Two different variants were found in exon 6 of ECM1 gene in both patients: a homozygous deletion of a nucleotide T at position 507 and a missense variant at nucleotide 389 which the first was a pathogenic mutation and the other one was a non-pathogenic variant.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله | Saeid Morovvati
School of Basic Sciences, Islamic Azad University Tehran Medical Branch, Tehran, Iran.


| Paniz Farshadyeganeh
School of Basic Sciences, Islamic Azad University Tehran Medical Branch, Tehran, Iran.


| Mojdeh Hamidizadeh
Department of Medical Genetics, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Gorgan, Iran.


| Ziba Morovvati
Faculty of Basic Sciences, Islamic Azad University of Zanjan, Zanjan, Iran.


| Samaneh Doost Mohammadi


نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/6466
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/56/article-56-790670.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده Case Report(s)
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