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Presymptomatic diagnosis using a deletion of a single codon..:

Ripa, Rasmus S. ; Katballe, Niels ; Wikman, Friedrik P....
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis.  570 (2005)  1 - p. 89-96 , 2005
Link: https://doi.org/10.1016/j.mrfmmm.2004.10.002