?:definition
|
-
Molecular assay reagents intended to identify deletions or duplications of the solute carrier family 2 member 1 (SLC2A1) gene, located at chromosome 1p34.2, which encodes the protein solute carrier family 2, facilitated glucose transporter member 1. Genetic variants at this locus have been associated with stomatin-deficient cryohydrocytosis with neurologic defects.
|