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Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia
Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and widened metaphyses in long bones. The pathogenesis of CMD remains largely unknown, and treatment for CMD is limited to sur...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200807/ https://www.ncbi.nlm.nih.gov/pubmed/30356088 http://dx.doi.org/10.1038/s41598-018-34157-5 |