Collagen is a slippery eel. After trying and failing to visualize collagen inside PLOD1-kEDS fibroblasts, we pivoted to measuring collagen secreted by cells as a readout for a drug repurposing screen.
Is it possible that another explanation is the proband being a compound heterozygote having a novel alteration to PLOD1 or even to a different gene altogether?
>> A possible genetic explanation for the disagreement we observe is that the father actually carries a large deletion that is invisible to old-school PCR-based genetic tests
Is it possible that another explanation is the proband being a compound heterozygote having a novel alteration to PLOD1 or even to a different gene altogether?
>> A possible genetic explanation for the disagreement we observe is that the father actually carries a large deletion that is invisible to old-school PCR-based genetic tests