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Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia
Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple bone deformities of the hands, feet, knees and spine.Objective. Describe the...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Revista de la Facultad de Medicina |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Universidad Nacional de Colombia
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://www.redalyc.org/articulo.oa?id=576363535011 |
| Ετικέτες: |
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