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أعرض في EDS

A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report.

التفاصيل البيبلوغرافية
العنوان: A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report.
المؤلفون: Ghazawi FM; Division of Dermatology, University of Ottawa, Ottawa, ON, Canada., Proulx ES; Hôpital de la Cité-de-la-Santé, Laval, QC, Canada.; Innovaderm Research Inc., Montreal, QC, Canada., Jafarian F; Division of Pediatric Dermatology, McGill University Health Center, Montreal Children's Hospital, Montreal, QC, Canada.
المصدر: SAGE open medical case reports [SAGE Open Med Case Rep] 2019 May 19; Vol. 7, pp. 2050313X19850359. Date of Electronic Publication: 2019 May 19 (Print Publication: 2019).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: SAGE Publications Country of Publication: England NLM ID: 101638686 Publication Model: eCollection Cited Medium: Print ISSN: 2050-313X (Print) Linking ISSN: 2050313X NLM ISO Abbreviation: SAGE Open Med Case Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [London] : SAGE Publications, 2013-
مستخلص: Lipoid proteinosis is a rare autosomal recessive genodermatosis that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. This study identifies a novel nonsense mutation in exon 9 of the extracellular matrix protein 1 gene associated with lipoid proteinosis, contributing to recent advances in our understanding of the molecular genetics underlying this disease. It is important to identify the mutations in the extracellular matrix protein 1 gene that are associated with lipoid proteinosis and how these affect protein function. Understanding the molecular basis for such genetic disorders may lead to novel therapeutic approaches for treating hereditary genodermatoses.
Competing Interests: Declaration of conflicting interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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فهرسة مساهمة: Keywords: ECM1; Lipoid proteinosis; exon 9; extracellular matrix protein 1; nonsense mutation
تواريخ الأحداث: Date Created: 20190618 Latest Revision: 20200929
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC6537054
DOI: 10.1177/2050313X19850359
PMID: 31205714
قاعدة البيانات: MEDLINE
الوصف
تدمد:2050-313X
DOI:10.1177/2050313X19850359