Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

In contrast, when we compared Col4a1 +/mut MEFs grown under normal conditions to those grown at reduced temperature, we found significant reductions of soluble intracellular COL4A1 and all mutants had a trend towards reduced insoluble intracellular COL4A1 and increased extracellular COL4A1, although most did not reach statistical significance (Fig. 6 C–J).

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