نتایج جستجو برای: heteroplasmy
تعداد نتایج: 700 فیلتر نتایج به سال:
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder. MELAS manifests different clinical symptoms due to heteroplasmy individual susceptibility tends be aggravated by metabolic events. It presents various manifestations including hearing impairment, diabetes mellitus, stroke like episodes. However, date, only f...
Sequence variants of human mitochondrial DNA (mt DNA) have been implicated in a variety disorders and conditions. Massive parallel sequencing is becoming increasingly popular due to its efficiency cost-effectiveness. In relation acquiring significant sequence information like levels heteroplasmy mt DNA, it offers marked improvement compared previous methods used. Here we describe variant callin...
Title: Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture micro-dissection and denaturing capillary electrophoreses Authors: Paulo Refinetti ([email protected];[email protected]) Christian Arstad ([email protected]) William Thilly ([email protected]) Stephan Morgenthaler ([email protected]) Per Ekstrom ([email protected]) Vers...
We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of mitochondrial DNA and obtained a negative result.
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