If a family member has CF and the gene mutation is known, discovery of the CF gene in other family members can be made with great accuracy.
Because many rare diseases are monogenic caused by a mutation in one gene the approach could potentially be used to treat any disease where the precise genetic mutation is known.
Of course, if the familial mutation is known, presumably from molecular testing of an affected family member, the carrier status of III-2 could be determined directly by molecular analysis, rather than estimated by Bayesian calculation.
C61S mutation is known to confer resistance to TAC.
Rett syndrome, which is a progressive, central nervous system disease that is caused by a gene mutation, is known to present with various symptoms.
Since the location of the mutation is known, we took a liberal approach to identify candidate genes in the target region to avoid making a false negative declaration (i.e., rather committing a Type I than Type II error).
Firstly, children and young adults with a parent with definite HHT may have limited symptoms, yet be at risk from some of the complications mentioned above; if the mutation is known in the affected parent, absence of this mutation in the child would prevent the need for screening tests.
Kras mutation is known to be a strong indicator of resistance to EGFR targeted therapies [42], [43].
Substitution by a valine could generate steric hindrance and this could explain why this mutation is known to increase quinolone resistance [42].
L1014S mutation is known to be associated with a high level of resistance to DDT, but a low level of resistance to pyrethroids [8].
Regarding EGFR internalization dynamics, Y992F mutation is known to increase the rate of receptor internalization [48], and Y992-non-phosphorylated EGFR undergoes internalization more rapidly than Y992-phosphorylated EGFR [49].
