European journal of human genetics : EJHG
(Eur J Hum Genet)
ISSNs: 1018-4813,
References in European journal of human genetics : EJHG:
Title | Authors | Year |
---|---|---|
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J | 2003 |
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. | Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A | 2005 |
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. | Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V | 2006 |