Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC25A19

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

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