Concepedia

Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness

D. Perucca‐Lostanlen, Robert W. Taylor, H Narbonne, B. Mousson de Camaret, Christine Hayes, A. Saunières, Véronique Paquis‐Flucklinger, Douglass M. Turnbull, B. Vialettes, Claude Desnuelle

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2002 · 22 citations · 25 references

DOI

Concepts

References

25

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

, , +12

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Nature · 1990 · 2.1K citations

, , +11

Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation

Michael P. King, Giuseppe Attardi · Science · 1989 · 1.6K citations

, , +14

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

Trends in Genetics · 1990 · 1.4K citations

, , +14

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

J. M. W. van den Ouweland, H.H.P.J. Lemkes, W. Ruitenbeek et al. · Nature Genetics · 1992 · 1.1K citations

, , +15