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Sterol Sensing Domain | The Addi and Cassi Fund - Niemann Pick Type C

Monday, November 29, 2021

Understanding Genetic Testing & Sequencing – It’s Greek To Me

January 19, 2008 by  
Filed under Genetics

We have recently learned from the Mayo Clinic that our twins Addi and Cassi have one Niemann Pick Type C gene mutation that has been identified in their bodies — it’s called Exon 12 DNA Change 1920delG.   This DNA sequence change (or deletion) is a “known pathogenic mutation in the sterol-sensing domain.”   The 1920delG mutation […]