Llwytho...

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder with hyperostosis of craniofacial bones and widened metaphyses in long bones. Patients often suffer from neurological symptoms due to obstruction of cranial foramina. No proven treatment is available and the pathophysiology is largely unkn...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Chen, I-Ping, Wang, Liping, Jiang, Xi, Aguila, Hector Leonardo, Reichenberger, Ernst J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2011
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3033186/
https://ncbi.nlm.nih.gov/pubmed/21149338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq541
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