A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.

Copeland CA, Han B, Tiwari A, Austin ED, Loyd JE, West JD, Kenworthy AK
Mol Biol Cell. 2017 Nov 1;28(22):3095-3111. doi: 10.1091/mbc.E17-06-0421. Epub 2017 Sep 13. PubMed Article

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