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

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference5 articles.

1. Topography of the DMD gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications;Dunnen;Am J Hum Genet,1989

2. Point mutations in the dystrophin gene;Roberts,1992

3. Indentification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation;Prior;Hum Mol Genet,1993

4. Protein truncation test (PTT) for rapid detection of translation-terminating mutations;Roest;Hum Mol Genet,1993

5. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes;Roberts;Am J Hum Genet,1991

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