Jacobs, L J A M

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. [electronic resource] - Journal of inherited metabolic disease 2004 - 47-55 p. digital

Publication Type: Case Reports; Journal Article

0141-8955

10.1023/B:BOLI.0000016601.49372.18 doi


Anemia--genetics
Bone Marrow Diseases--genetics
Child
Child, Preschool
DNA, Mitochondrial--genetics
Dimerization
Fatal Outcome
Female
Fibrosis
Gene Deletion
Gene Duplication
Gene Rearrangement
Genotype
Humans
Pancreatic Diseases--genetics
Phenotype
Syndrome