A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Osteochondritis dissecans is a disorder in which fragments of articular cartilage and subchondral bone dislodge from the joint surface. We analyzed a five-generation family in which affected members had autosomal-dominant familial osteochondritis dissecans. A genome-wide linkage analysis identified...

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Autori principali: Stattin, Eva-Lena, Wiklund, Fredrik, Lindblom, Karin, Önnerfjord, Patrik, Jonsson, Björn-Anders, Tegner, Yelverton, Sasaki, Takako, Struglics, André, Lohmander, Stefan, Dahl, Niklas, Heinegård, Dick, Aspberg, Anders
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820178/
https://ncbi.nlm.nih.gov/pubmed/20137779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.12.018
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