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Reagents, Molecular Assay, Gene Anomaly, Mutation, CBS

Definition : Molecular assay reagents intended to identify mutations in the cystathionine-beta-synthase (CBS) gene, located at chromosome 21q22.3, which encodes for a protein involved in the transsulfuration pathway. Mutations at this locus have been identified in patients with homocystinuria.

Entry Terms : "Osteoporosis Gene Mutation Detection Reagents" , "Cystathionine Beta-Synthase Deficiency Gene Mutation Detection Reagents" , "Homocystinuria Gene Mutation Detection Reagents" , "Osteoporosis Diagnostic Reagents" , "CBS Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Polygenic, Osteoporosis"

UMDC code : 24329

   

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