The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis

Mutations in the COL13A1 gene result in congenital myasthenic syndrome type 19 (CMS19), a disease of neuromuscular synapses and including various skeletal manifestations, particularly facial dysmorphisms. The phenotypic consequences in Col13a1 null mice (Col13a1(−/−)) recapitulate the muscle finding...

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Detalles Bibliográficos
Autores principales: Kemppainen, A. V., Finnilä, M. A., Heikkinen, A., Härönen, H., Izzi, V., Kauppinen, S., Saarakkala, S., Pihlajaniemi, T., Koivunen, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8990013/
https://www.ncbi.nlm.nih.gov/pubmed/35393492
http://dx.doi.org/10.1038/s41598-022-09653-4

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