A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

Philip Murray, Charlottle L Alston,Langping He,Robert Mcfarland,Julian Ph Shield, A A M Morris,Ellen Crushell, J E Hughes,Robert W Taylor, P E Clayton

mag(2015)

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