IndraLab

Statements

COL9A1 activates SCN8A. 3 / 3
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"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."
30740902
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"Therefore, it was surprising that the splice site mutation in COL9A1 that causes MED did not result in skipping of exon 9."
16909383
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"The results show that mutations in COL9A1 can cause MED, but they also suggest that mutations in COL9A1, COL9A2, COL9A3, COMP, and DTDST are not the major causes of MED and that there exists at least one additional locus."
11565064