Subsequent mutation analyses identified about 80 discrete missense mutations in over a 1,000 families and sporadic patients worldwide (see Supp. Table S2 for mutations, PDmutDB for all references: http://www.molgen.ua.ac.be/PDmutDB).ua.ac.be/PDmutDB
Mutation analyses identified homozygous, compound heterozygous as well as heterozygous [ Bonifati et al., 2003; Clark et al., 2004; Hague et al., 2003; Hedrich et al., 2004a; Nuytemans et al., 2009] missense mutations and CNVs in patients (see Supp. Tables S5-1 and S5-2 for mutations, PDmutDB for all references: http://www.molgen.ua.ac.be/PDmutDB).ua.ac.be/PDmutDB
Mutation analyses identified within the N-domain of CenH3Cse4 a 33 amino acids motif (END) that, being essential for viability, seems to interact with COMA, a kinetochore complex that is functionally related to NAC/CAD and mediates protein protein interactions with other kinetochore/centromere proteins, including the essential CBF3 complex.
Mutational analyses identified activating GNAS mutations in 16 LAMNs (50%) but in none of the MACs.
Either EGFR FISH or mutation analyses could identify NSCLC with better outcome and response to TKIs [9], [10], [26], [28].
For point mutations, SOLiD and Illumina analyses identified 136 and 138 fixed mutations in all 6 tolerant strains, respectively, with 135 of these mutations being identified in both analyses.
Previous genetic and biochemical analyses identified mutations in the ATP-binding domains of yeast MLH proteins that disrupt ATP hydrolysis to a greater extent than ATP binding (e.g., mlh1 -E31A).
TNNI3 is the first recessive gene identified for this condition, and we suggest that other such genes could be pinpointed by mutation analyses designed to identify homozygous mutations.
In some families linked to chromosome 17q21, extensive mutation analyses could not identify a MAPT mutation.
Genetic analyses identified nonsense mutations in the NS5A sequence of some HCV variants.
