IndraLab

Statements

SLC26A2 activates SCN8A. 3 / 3
| 3
reach
"EDM4 contains the DTDST gene, in which a homozygous R279W mutation was shown to cause recessively inherited MED associated with club foot and double layered patella (Superti-Furga et al. 1999)."
11565064
reach
"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."
30740902
reach
"The homozygous A2092T (T689S) mutation could be one of the mutations in the DTDST gene causing MED."
23934641