IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC25A19
Definition : Molecular assay reagents intended to identify mutations in the solute carrier family 25 (mitochondrial thiamine deoxynucleotide carrier), member 19 (SLC25A19) gene, located at chromosome 17q25.3, which encodes for a protein that transports thiamine pyrophosphate into the mitochondria. This inherited genetic mutation has been identified in patients with Amish lethal microcephaly.
Entry Terms : "Amish Type Microcephaly Gene Mutation Reagents" , "Microcephaly, Amish type Gene Mutation Reagents" , "SCL25A19 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC25A19"
UMDC code : 24969