Concepedia

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse, Lodewijk IJlst, Anton O. Muijsers, Ola H. Skjeldal, Oddvar Stokke, C. Jakobs, G. T. N. Besley, J. E. Wraith,

Nature Genetics · 1997 · 306 citations · 18 references

DOI

Concepts

References

18

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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Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

Marilyn Kozak · Nucleic Acids Research · 1984 · 3.3K citations · Full text

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

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A novel, cleavable peroxisomal targeting signal at the amino‐terminus of the rat 3‐ketoacyl‐CoA thiolase.

Bart W. Swinkels, Stephen J. Gould, Andrea Bodnár et al. · The EMBO Journal · 1991 · 626 citations · Full text

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nancy Braverman, Gary Steel, Cassandra Obie et al. · Nature Genetics · 1997 · 445 citations

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