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

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, OCRL

Definition : Molecular assay reagents intended to identify mutations in the oculocerebrorenal syndrome of Lowe (OCRL) gene, located at chromosome Xq26.1, which encodes for an enzyme that helps modify membrane phospholipids known as phosphoinositides. Mutations at this locus have been identified in male patients with early-onset (newborn) Lowe syndrome; carrier females develop opacities in the eye lens that may progress to cataracts.

Entry Terms : "Osteoporosis Gene Mutation Reagents" , "Oculocerebrorenal Syndrome of Lowe Gene Mutation Reagents" , "Oculocerebrorenal (OCLR) Syndrome Gene Mutation Reagents" , "Lowe Syndrome Gene Mutation Reagents" , "OCRL Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Polygenic, Osteoporosis" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, OCRL"

UMDC code : 24647

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