Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

Yair Anikster, Marjan Huizing, James White, Yuriy O. Shevchenko, Diana L. Fitzpatrick, Jeffrey W. Touchman, John G. Compton, Sherri J. Bale, Richard T. Swank, William A. Gahl*, Jorge R. Toro

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

190 Scopus citations

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Medicine & Life Sciences