n conclusion, we identified several novelHcM-causing MYH7 mutations. More importantly, this isthe first study to report a rare HCM family with monoallelicdouble mutations
Rare variant in the MYH7 gene associated to HCM
2 Matching Annotations
- Last 7 days
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
-
Thevariants confirmed in this family were MYH7-a934V andMYH7-e1387K (Fig. 3a).
two variants confirmed by Sanger sequencing in the MYH7 gene among HCM family
-