Sixty-four pathogenic variants described in the BLM gene include nucleotide insertions and deletions (41%), nonsense variants (30%), variants resulting in mis-splicing (14%), and missense variants (16%).[221,222] A specific pathogenic variant identified in the Ashkenazi Jewish population is a 6-bp deletion/7-bp insertion at nucleotide 2,281, designated as BLMASH .[223] Many of these variants result in truncation of the C-terminus, which prevents normal localization of this protein to the nucleus
Not Health Canada-approved for human use
Cell 2015;161:9991011
Supports detoxification and immune function while providing free radical protection
Gut dysbiosis has been related with the pathogenesis of a wide spectrum of liver diseases including autoimmune hepatitis, autoimmune cholangiopathies, alcoholic liver disease, non-alcoholic liver disease (NAFLD), hepatocellular carcinoma, acute liver injury, and liver fibrosis/cirrhosis (Hartmann et al., 2019)
2.- Qu quiere decir que es una tcnica mnimamente invasiva