X-Nico

unusual facts about point mutations



Fecal occult blood

The test looks at 23 individual DNA alterations, including 21 specific point alterations in the APC, KRAS and p53 genes, as well as testing BAT26, a gene involved in microsatellite instability (MSI).


see also

Epithelial basement membrane dystrophy

In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified,

Neurophysin II

Point mutations in neurophysin II underline most cases of hereditary hypothalamic diabetes insipidus, a disorder resulting from insufficient ADH release into systemic circulation.