| The genetic study conducted identified a pathogenic change C698G, a missense mutation in FH gene. |
| Protein modeling demonstrated that the missense mutation is damaging and may alter binding to ATP molecules. |
| Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. |
| A further two types of substitution are less common but potentially have more serious effects than missense mutations. |
| Using missense mutants to test the ability of Hsp60 and Hsp70 chaperones to rescue misfolded proteins. |
| Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk. |
