Article
Position effect in human genetic disease.
Human molecular genetics - 1 Jan 1998
Kleinjan D J, van Heyningen V
Abstract excerpt
The spatially, temporally and quantitatively correct expression of a gene requires the presence not only of intact coding sequence, free of adverse nucleotide changes, but also correctly functioning regulatory control. With the identification of an increasing number of disease-related genes, the molecular defect in many cases has been defined. It is becoming clear that it is not always the transcription unit that...
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