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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: wildenberg sc. 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.
Evidence that a locus for familial high myopia maps to chromosome 18p.
Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA. Young TL, et al. Among authors: wildenberg sc. Am J Hum Genet. 1998 Jul;63(1):109-19. doi: 10.1086/301907. Am J Hum Genet. 1998. PMID: 9634508 Free PMC article.
A second locus for familial high myopia maps to chromosome 12q.
Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA. Young TL, et al. Among authors: wildenberg sc. Am J Hum Genet. 1998 Nov;63(5):1419-24. doi: 10.1086/302111. Am J Hum Genet. 1998. PMID: 9792869 Free PMC article.