| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8342904 | Molecular Genetics and Metabolism | 2018 | 10 Pages |
Abstract
Thus, this study identified the homozygotes for the c.315-48â¯Tâ¯>â¯C variant as pathological. By extension, when the samples were categorised according to the haplotypes, the GTC haplotype in homozygosis was pathological.
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Authors
Valentina Brancaleoni, Francesca Granata, Pasquale Missineo, Silvia Fustinoni, Giovanna Graziadei, Elena Di Pierro,