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...

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Publicado en:Sci Rep
Autores principales: Kanaujiya, Jitendra, Bastow, Edward, Luxmi, Raj, Hao, Zhifang, Zattas, Dimitrios, Hochstrasser, Mark, Reichenberger, Ernst J., Chen, I-Ping
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6200807/
https://ncbi.nlm.nih.gov/pubmed/30356088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-34157-5
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