Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing
Author:
Affiliation:
1. National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom.
2. Oxford Medical Genetics Laboratory, The Churchill Hospital, Headington, Oxford, United Kingdom.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2005.9.190
Reference33 articles.
1. Detection and Quantification of Heteroplasmic Mutant Mitochondrial DNA by Real-Time Amplification Refractory Mutation System Quantitative PCR Analysis: A Single-Step Approach
2. Quantification of Mitochondrial DNA Heteroplasmy by Temporal Temperature Gradient Gel Electrophoresis
3. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
4. MELAS: Clinical features, biochemistry, and molecular genetics
5. Qualitative and quantitative detection of mitochondrial heteroplasmy in cerebrospinal fluid using denaturing high-performance liquid chromatography
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