Article
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.
European journal of human genetics : EJHG - 1 Mar 2000
van den Ouweland J M, de Klerk J B, van de Corput M P, Dirks R W, Raap A K, Scholte H R, Huijmans J G, Hart L M, Bruining G J, Maassen J A
Abstract excerpt
We have recently diagnosed a patient with anaemia, severe tubulopathy, and diabetes mellitus. As the clinical characteristics resembled Pearson marrow-pancreas syndrome, despite the absence of malfunctioning of the exocrine pancreas in this patient, we have performed DNA analysis to seek for deletions in mtDNA. DNA analysis showed a novel heteroplasmic deletion in mtDNA of 8034bp in length, with high proportions...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.