Contiguous gene deletion of ELOVL7 , ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

Author: Janssen Rolf J.R.J.   Distelmaier Felix   Smeets Roel   Wijnhoven Tessa   stergaard Elsebet   Jaspers Nicolaas G.J.   Raams Anja   Kemp Stephan   Rodenburg Richard J.T.   Willems Peter H.M.G.   van den Heuvel Lambert P.W.J.   Smeitink Jan A.M.   Nijtmans Leo G.J.  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.18, Iss.18, 2009-09, pp. : 3365-3374

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Abstract