Adding insult to injury
A putative splicing factor mutation causes phenotypic variation of an inherited disease
Aug 14, 2003
Some genetic diseases do not follow a simple pattern of inheritance and exhibit phenotypic variation. This can be explained as a monogenic disorder that is being affected by the action of nonlinked genetic modifiers. A molecular mechanism by which phenotypic variation in disease severity occurs is reported by David Buchner and colleagues at the University of Michigan School of Medicine in the August 15