کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5905781 1159929 2014 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma
چکیده انگلیسی
MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373*), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 545, Issue 2, 25 July 2014, Pages 271-275
نویسندگان
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