Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches-Reference-Cited by-同舟云学术

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Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches

Published:2008-09-17 Issue:2 Volume:30 Page:191-196
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bandelt Hans-Jürgen,Salas Antonio,Taylor Robert W.,Yao Yong-Gang

Funder

Wellcome Trust

Newcastle upon Tyne Hospitals Foundation, National Health Service (NHS) Trust

NHS National Commissioning Group (NCG) Rare Mitochondrial Disorders of Adults and Children

Chinese Academy of Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20846/fullpdf

Reference46 articles.

1. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool;Achilli;Am J Hum Genet,2004

2. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations;Ballana;Hum Mutat,2008

3. What is a “novel” mtDNA mutation-and does “novelty” really matter?;Bandelt;J Hum Genet,2006b

4. The search of “novel” mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor;Bandelt;Int J Cardiol,2008

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