Concepedia

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

Pauline A.M. Roest, Roland G. Roberts, Astrid C. van der Tuijn, Judith C. Heikoop, Gert‐Jan B. van Ommen, Johan T. den Dunnen

Neuromuscular Disorders · 1993 · 58 citations · 5 references

DOI

Concepts

References

5

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Johan T. den Dunnen, P.M. Grootscholten, Egbert Bakker et al. · PubMed · 1989 · 505 citations

, , +11

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

Pauline A.M. Roest, Roland G. Roberts, Shigeto Sugino et al. · Human Molecular Genetics · 1993 · 300 citations

, , +13

Point mutations in the dystrophin gene.

Roland G. Roberts, Martin Bobrow, D. R. Bentley · Proceedings of the National Academy of Sciences · 1992 · 190 citations

, , +15

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

Roland G. Roberts, Teresa Barby, E. Manners et al. · PubMed · 1991 · 165 citations

, , +8

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder et al. · Human Molecular Genetics · 1993 · 39 citations

, , +14