The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, Gales TL, Bayer ME, King RA, Brilliant MH.
Gardner JM, et al. Among authors: brilliant mh.
Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9238-43. doi: 10.1073/pnas.94.17.9238.
Proc Natl Acad Sci U S A. 1997.
PMID: 9256466
Free PMC article.