دورية أكاديمية
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
| العنوان: | A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3 |
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| المؤلفون: | Boutboul, Sandrine, Black, Graeme C M, Moore, John E., Sinton, Janet, Menasche, Maurice, Munier, Francis L., Laroche, Laurent, Abitbol, Marc, Schorderet, Daniel F. |
| المصدر: | Boutboul , S , Black , G C M , Moore , J E , Sinton , J , Menasche , M , Munier , F L , Laroche , L , Abitbol , M & Schorderet , D F 2006 , ' A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3 ' , Human Mutation , vol. 27 , no. 6 , pp. 553-557 . https://doi.org/10.1002/humu.20331Test |
| سنة النشر: | 2006 |
| المجموعة: | The University of Manchester: Research Explorer - Publications |
| مصطلحات موضوعية: | BIGH3, Cogan dystrophy, Corneal dystrophy, EBMD, Epithelial basement membrane corneal dystrophy, TGFBI |
| الوصف: | Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map-dot-fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inheritance have been described. We report the analysis of two families with an autosomal dominant pattern of inheritance as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies. This is the first report of a molecular mutation in individuals with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. Based on our screening, up to 10% of EBMD patients could have a mutation in this gene. © 2006 Wiley-Liss, Inc. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/humu.20331 |
| الإتاحة: | https://doi.org/10.1002/humu.20331Test https://research.manchester.ac.uk/en/publications/bbab42d9-b60a-48e8-8a76-d39cc76e5ff8Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.EE495919 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/humu.20331 |
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