IndraLab

Statements


SLC26A2 activates SCN8A. 3 / 3
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"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)."

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"The homozygous A2092T (T689S) mutation could be one of the mutations in the DTDST gene causing MED."

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"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."