A mutation in the calreticulin gene promoter in a family case of schizoaffective disorder leads to its aberrant transcriptional activation.

Abstract excerpt

We previously reported a G>C point mutation located at position -48 within the calreticulin gene core promoter in one individual suffering from paranoid schizophrenia that has also been diagnosed with affective disorder. However, a putative bona fide functional link between this mutation in the calreticulin gene and schizoaffective disorder has remained speculative. We have carried out calreticulin genotyping and...

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