Concepedia

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

Olivier Le Saux, Konstanze Beck, Christine Sachsinger, Carina Treiber, Harald H.H. Göring, Katie Curry, Eric W. Johnson, Lionel Bercovitch, Anna-Susan Marais, Sharon F. Terry,

Human Genetics · 2002 · 41 citations · 32 references

DOI

Concepts

References

32

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

, , +11

Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman et al. · Nature Genetics · 2000 · 597 citations

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch et al. · Nature Genetics · 2000 · 540 citations · Full text

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Pseudoxanthoma elasticum: Mutations in the <i>MRP6</i> gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Franziska Ringpfeil, Mark Lebwohl, Angela M. Christiano et al. · Proceedings of the National Academy of Sciences · 2000 · 396 citations

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