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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Development
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Company of Biologists Ltd 2018
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5825869/
https://ncbi.nlm.nih.gov/pubmed/29180569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dev.156588
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