Concepedia

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

Dawn L. Thiselton, Christiane Alexander, Simon P. Brooks, Thomas Rosenberg, Hans Eiberg, Birgit Kjer, P Kjer, Shomi S. Bhattacharya, Marcela Votruba, Alex Morris

Human Genetics · 2001 · 75 citations · 14 references

DOI

Concepts

References

14

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 94.5K citations

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PSORT: a program for detecting sorting signals in proteins and predicting their subcellular localization

Kenta Nakai, Kenta Nakai, Paul Horton · Trends in Biochemical Sciences · 1999 · 2.2K citations

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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin et al. · Nature Genetics · 2000 · 1.4K citations

, , +13

Predicting coiled coils by use of pairwise residue correlations.

Bonnie Berger, David B. Wilson, Eva Wolf et al. · Proceedings of the National Academy of Sciences · 1995 · 622 citations

, , +13

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.

Joseph D. Terwilliger · PubMed · 1995 · 457 citations

, , +15