Concepedia

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel, Yoram Nevo, Staffan Eriksson, Orly Elpeleg

Nature Genetics · 2001 · 621 citations · 25 references

DOI

Concepts

References

25

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

, , +17

A MICROSPECTROPHOTOMETRIC METHOD FOR THE DETERMINATION OF CYTOCHROME OXIDASE

S.J. Cooperstein, Arnold Lazarow · Journal of Biological Chemistry · 1951 · 1.4K citations · Full text

, , +5

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 900 citations

, , +17

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

P. G. Barth, H.R. Scholte, J.A. Berden et al. · Journal of the Neurological Sciences · 1983 · 701 citations

, , +17

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations

, , +16