Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Authors: Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello, Dominick Amato, Linda Armstrong, Sylvia Bellucci, Gerson Carakushansky, J. Ellis, Chin-To Fong, Jane S. Green, Elise Héon, Eric Legius, Alex V. Levin, H. Karel Nieuwenhuis, A. Pinckers, Naoaki Tamura, Margo L. Whiteford, Hisato Yamasaki, Richard A. Spritz - The American Journal of Human Genetics 1998 cited by 162