(B) Identification of mutations in the targeting locus of PI3K genes.
Mark O'Driscoll, Andrew Jackson and colleagues report the identification of mutations in ORC1 in individuals with microcephalic primordial dwarfism.
Johan P de Winter and colleagues report the identification of mutations in SLX4 in a new Fanconi anemia subtype.
Andrew Jackson, Ernie Bongers and colleagues report the identification of mutations in five genes in individuals with Meier-Gorlin syndrome.
DNA sequence analysis of enriched phagemid panning isolates allowed identification of mutations conferring enhanced thermal stability.
A major challenge facing the community involves identification of mutations that drive cancer.
Murat Gunel and colleagues report the identification of mutations in the laminin γ3 gene that cause complex bilateral occipital cortical gyration abnormalities in humans.
Mark Samuels and colleagues report the identification of mutations in ORC4, which encodes a component of the origin recognition complex, in individuals with Meier-Gorlin syndrome.
Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia.
Sequencing of selected clones allowed the identification of mutations that reduce SCF binding affinity to c-Kit.
The identification of mutations that guide therapy selection for patients with cancer is now routine in many clinical centres.
