DKC1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the DKC1 gene.

**Synonyms:** - CBF5 Gene Mutation - DKC Gene Mutation - DKCX Gene Mutation - Dyskerin Pseudouridine Synthase 1 Gene Mutation - NAP57 Gene Mutation - NOLA4 Gene Mutation - XAP101 Gene Mutation