COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PLoS Genet · 2011 · PMC3098190 · PMID 21625620

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did not reach statistical significanceno p-value reported

Overall, the ratio of secreted/intracellular COL4A1 for the COL4A1 M1016V mutation was reduced, however the results were variable (n = 9) and did not reach statistical significance.

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