| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833675 | Molecular Genetics and Metabolism | 2012 | 9 Pages |
Abstract
⺠The PAH genotype may have predictive value concerning BH4-response. ⺠Disturbance of exon/exon splicing silencers may cause different severity of PKU. ⺠PAH exon 11 was identified as a vulnerable exon.
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Authors
Caroline Heintz, Steven F. Dobrowolski, Henriette Skovgaard Andersen, Mübeccel Demirkol, Nenad Blau, Brage Storstein Andresen,