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Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome
Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from recessive mutations affecting the glucosyltransferase B3GLCT, leading to congenital corneal opacity and diverse extra-ocular manifestations. Together with the fucosyltransferase POFUT2, B3GLCT adds Glucoseβ1-3Fucose dis...
Gorde:
| Argitaratua izan da: | Sci Rep |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5043182/ https://ncbi.nlm.nih.gov/pubmed/27687499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33974 |
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