Quantitative analysis of proteins which are members of the same protein complex but cause locus heterogeneity in disease.

Abstract excerpt

It is still largely unknown how mutations in different genes cause similar diseases - a condition known as locus heterogeneity. A likely explanation is that the different proteins encoded by the locus heterogeneity genes participate in the same biological function and, specifically, that they belong to the same protein complex. Here we report that, in up to 30% of the instances of locus heterogeneity, the...

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