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Journal: Biology Open
Biol Open (2017) 6 (8): 1174–1179.
Published: 27 June 2017
...Vishnu Hosur; Benjamin E. Low; Leonard D. Shultz; Michael V. Wiles ABSTRACT In humans, gain-of-function (GOF) mutations in RHBDF2 cause the skin disease tylosis. We generated a mouse model of human tylosis and show that GOF mutations in RHBDF2 cause tylosis by enhancing the amount of amphiregulin...