Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

Source:http://linkedlifedata.com/resource/pubmed/id/9668111

J. Biol. Chem. 1998 Jul 24 273 30 19228-34

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9668111