Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10817735 | Clinical Biochemistry | 2015 | 4 Pages |
Abstract
Our results expand the mutational spectrum in hyperargininemia patients and indicate that the novel splicing mutation results in an aberrant transcript retaining intronic sequences. Two novel alternatively spliced ARG1 transcripts were also recognized.
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Authors
Vanessa Villegas-Ruiz, Felix J. Campos-Garcia, Silvina Contreras-Capetillo, Claudia M. Moreno-Graciano, Felipe A. Maldonado-Solis, Mario A. Maldonado-Solis, Juan C. Zenteno,