Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Densitometric quantification confirmed that secretion of the 216C and 163R mutant proteins is greatly reduced, as with the lysates, with highly significant reductions in the amount of C1QTNF5 detected in the conditioned media from transfected cells (Fig. 6e,g ).

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