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Towards a mtDNA locus-specific mutation database using the LOVD platform

Lookup NU author(s): Dr Joanna Elson, Dr John Yarham, Professor Francois van der Westhuizen, Dr Robert Pitceathly, Professor Robert Taylor, Professor Bobby McFarlandORCiD


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Publication metadata

Author(s): Elson JL, Sweeney MG, Procaccio P, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RDS, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2012

Volume: 33

Issue: 9

Pages: 1352-1358

Print publication date: 02/07/2012

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/humu.22118


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Funder referenceFunder name
Medical Research Council, UK
Research Council UK RCUK Academic fellowship
UK NHS Specialised Services "Rare Mitochondrial Disorders of Adults and Children" Diagnostic Service
Association contre les Maladies Mitochondriales
Australian National Health and Medical Research Council
Department of Health's NIHR Biomedical Research Centre
Fondation pour la Recherche Medicale
Union Nationale des Aveugles et Deficients Visuels
Wellcome Trust
205844Simons Foundation
AG24373National Institutes of Health
DK73671National Institutes of Health
G1000848Medical Research Council, UK
NS21328National Institutes of Health
NS41850National Institutes of Health
SAF2011-26983Ministerio de Ciencia e Innovacion