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Reagents, Molecular Assay, Gene Anomaly, Mutation, BBS1

Definition : Molecular assay reagents intended to identify mutations in the Bardet-Biedl syndrome (BBS1) gene, located at chromosome 11q13, which encodes for a protein that may be involved in eye, limb, cardiac, and reproductive system development. Mutations at this locus have been identified in patients with Bardet-Biedl syndrome type 1 (BBSI), a heterogeneous disorder linked to various other loci.

Entry Terms : "Biedl-Bardet Syndrome Type 1 Gene Mutation Detection Reagents" , "Bardet-Biedl Syndrome Type 1 Gene Mutation Detection Reagents" , "BBS1 Gene Mutation Detection Reagents"

UMDC code : 24309

   

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