IndraLab

Statements

COL9A1 activates SCN8A. 2 / 2
| 2
reach
"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."
30740902
reach
"Therefore, it was surprising that the splice site mutation in COL9A1 that causes MED did not result in skipping of exon 9."
16909383