Article
The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion.
Human molecular genetics - 1 Nov 1994
Spelbrink J N, Van Oost B A, Van den Bogert C
Abstract excerpt
The relationship between mitochondrial genotype and mitochondrial phenotype was investigated in lymphoblasts derived from a patient with the Pearson syndrome. In 70% of the mtDNA of this Pearson cell line a deletion from within the COX II gene to within the ND5 gene was present. The deletion led...
Topics
- Cells, Cultured
- DNA, Mitochondrial
- Electron Transport Complex IV
- Genotype
- Humans
- Lymphocytes
- Pancreatic Diseases
- Phenotype
- Precipitin Tests
- Protein Biosynthesis
- RNA, Messenger
- Sequence Deletion
- Syndrome
- Transcription, Genetic