Inactivating BLM Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the BLM gene that either inhibits expression or results in the translation of an inactive Bloom syndrome protein.

**Synonyms:** - BLM Gene Inactivation - BLM Inactivating Gene Mutation - BLM Inactivating Mutation - BLM Loss of Function Gene Mutation - BLM Loss of Function Mutation - Inactivating BLM Mutation - Inactivating BS Gene Mutation - Inactivating Bloom Syndrome Gene Mutation - Inactivating RECQ2 Gene Mutation - Inactivating RECQL2 Gene Mutation - Inactivating RECQL3 Gene Mutation