Co-inheritance of HBB:c.-106G   >  C, a rare single nucleotide variation at position -56 relative to transcription initiation site, with other known mutations in the globin clusters.

Conclusion This is another example of rare or new nucleotide variations whose identification and characterization is crucial in order to carry out appropriate genetic counselling to a potential risk couple. PMID: 29157184 [PubMed - as supplied by publisher]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research