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Hermansky-Pudlak syndrome in a Swiss population.
Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. Schallreuter KU, et al. Dermatology. 1993;187(4):248-56. doi: 10.1159/000247258. Dermatology. 1993. PMID: 8274781
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Oh J, et al. Am J Hum Genet. 1998 Mar;62(3):593-8. doi: 10.1086/301757. Am J Hum Genet. 1998. PMID: 9497254 Free PMC article.