Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/37388| Title: | A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type | Authors: | Albuz, B. Çetin, Gökhan Ozan Özhan, Bayram Sarikepe, B. Anlaş, Ö. Öztürk, M. Zeybek, S. |
Keywords: | carbohydrate sulfotransferases sulfotransferase case report child chondrodysplasia female genetics human pathology stop codon turkey (bird) Child Codon, Nonsense Female Humans Osteochondrodysplasias Sulfotransferases Turkey |
Publisher: | NLM (Medline) | Abstract: | Abstract Not Available | URI: | https://hdl.handle.net/11499/37388 https://doi.org/10.1097/MCD.0000000000000295 |
ISSN: | 1473-5717 |
| Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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