| Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. |
| All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. |
| Only three of the mutations are of the missense type as they result in the replacement of one amino acid with another. |
| All mutations, including the missense mutations, result in nearly absent alpha-fucosidase activity. |
| Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk. |
| The latter harbor the ortholog of the most frequently encountered human R350P desmin missense mutation. |
