Work

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

Year: 2001

Type: article

Study design: Observational Study

Source: Nature Genetics

DOI: 10.1038/ng576

Authors: 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

Institutions: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, University of Minnesota, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Roswell Park Comprehensive Cancer Center, National Cancer Institute

Language: English

Topic: Cellular transport and secretion

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Heart, Lung, and Blood Institute, National Cancer Institute

Awards: G177439895, G5883391663, Animal Models in Inherited Hemorrhagic Diseases

OpenAlex ID: W1535022681

FWCI: 6.233

Cites: 30

Cited by: 230

Related to: 10