کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6041877 | 1189335 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy
ترجمه فارسی عنوان
همسویی دو حذف جداگانه درونی ژن دیستروفین در دو پسر عموی مادر با دیستروفی عضلانی دوشن
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
چکیده انگلیسی
The identification of two independent mutations is rarely described between affected members of the same family with Duchenne Muscular Dystrophy. This study reports the presence of two distinct intragenic dystrophin deletions in a Turkish family. Exon 54 deletion was identified originally in the proband, whereas his maternal cousin had deletions of exons 43-50 in the dystrophin gene. As indicated, only the mother of the proband was identified as exon 54 deletion carrier however, the proband's cousin was detected as a sporadic case. These molecular genetic data reveal an interesting and novel mixture, in the same family, of both mutations of the same gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 23, Issue 1, January 2013, Pages 15-18
Journal: Neuromuscular Disorders - Volume 23, Issue 1, January 2013, Pages 15-18
نویسندگان
Burcu Balci-Hayta, Beril Talim, Pervin Dinçer, Haluk TopaloÄlu,