Serpins were one of the first families for which disease-causing mutations were directly analyzed in reference to the available crystal structures.

But researchers have recently begun to speed the search for disease-causing genetic mutations in dogs, which often have human counterparts.

Few cases have been reported, where disease-causing mutations appear at the high frequencies supported by balanced selection.

However, prenatal testing may be available for families in which the disease-causing mutations have been identified in an affected family member in a research or clinical laboratory.

The majority of disease-causing mutations result in duplications of the entire PLP1 gene.

If disease-causing mutations are common, Dr. Goldstein wrote, the hapmap "will greatly accelerate the identification of disease-related genetic variation."

In addition, the Americans With Disabilities Act prevents employers from discriminating against people who have disease-causing genetic mutations.

Though comprising a very small fraction of the genome, mutations in the exome are thought to harbor 85% of disease-causing mutations.

It is estimated that the protein coding regions of the human genome constitute about 85% of the disease-causing mutations.

Several loss-of-function mutations disease-causing mutations in GRN have been identified.