کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3976234 | 1601008 | 2006 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
زنان، زایمان و بهداشت زنان
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چکیده انگلیسی
SummaryMitochondrial disorders are heterogeneous systemic ailments that are most often caused by maternal inheritance of a variety of mutations of the mitochondrial (mt) DNA. Paternal inheritance and somatic mutation are rare. The disorders are well recognized not only for the genotypic heterogeneity, but also the phenotypic variation among the affected members of a single family. The genotype-phenotype correlation of the diversity of the syndromic and non-syndromic features of mitochondrial disorders are discussed. Some aspects of the molecular mechanisms of this heterogeneity, and the histopathologic findings are highlighted.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Taiwanese Journal of Obstetrics and Gynecology - Volume 45, Issue 3, September 2006, Pages 201-207
Journal: Taiwanese Journal of Obstetrics and Gynecology - Volume 45, Issue 3, September 2006, Pages 201-207