Concepedia

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Ronald G. Lafrenière, Daniel Rochefort, Nathalie Chrétien, Johanna M. Rommens, Jeffrey I. Cochius, Reetta Kälviäinen, Unto Nousiainen, George Patry, K Farrell, Birgitta Söderfeldt,

Nature Genetics · 1997 · 179 citations · 17 references

DOI

Concepts

References

17

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

Andrew P. Feinberg, Bert Vogelstein · Analytical Biochemistry · 1983 · 25.2K citations

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

, , +12

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

, , +12

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

, , +8

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations

, , +16