The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects

Inactivating mutations in the ubiquitously expressed membrane trafficking component GMAP-210 (encoded by Trip11) cause achondrogenesis type 1A (ACG1A). ACG1A is surprisingly tissue specific, mainly affecting cartilage development. Bone development is also abnormal, but as chondrogenesis and osteogen...

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Detalles Bibliográficos
Autores principales: Bird, Ian M., Kim, Susie H., Schweppe, Devin K., Caetano-Lopes, Joana, Robling, Alexander G., Charles, Julia F., Gygi, Steven P., Warman, Matthew L., Smits, Patrick J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825869/
https://www.ncbi.nlm.nih.gov/pubmed/29180569
http://dx.doi.org/10.1242/dev.156588

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825869/
https://www.ncbi.nlm.nih.gov/pubmed/29180569
http://dx.doi.org/10.1242/dev.156588

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