Molecular Characterization of the Protein Encoded by the Hermansky-Pudlak Syndrome Type 1 Gene
Open Access
- 1 January 2000
- journal article
- Published by Elsevier
- Vol. 275 (2) , 1300-1306
- https://doi.org/10.1074/jbc.275.2.1300
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- Multi‐organellar disorders of pigmentation: tied up in trafficClinical Genetics, 1999
- Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 AdaptorMolecular Cell, 1999
- Hermansky-Pudlak Syndrome: Models for Intracellular Vesicle FormationMolecular Genetics and Metabolism, 1998
- Identification of a Novel Transcript Produced by the Gene Responsible for the Hermansky–Pudlak Syndrome in Puerto RicoJournal of Investigative Dermatology, 1998
- Mouse Models of Hermansky Pudlak Syndrome: A ReviewPigment Cell Research, 1998
- Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus HeterogeneityAmerican Journal of Human Genetics, 1998
- Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak SyndromeAmerican Journal of Human Genetics, 1997
- The mouse pale ear ( ep ) mutation is the homologue of human Hermansky–Pudlak syndromeProceedings of the National Academy of Sciences, 1997
- Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare 'AT-AC' IntronHuman Molecular Genetics, 1997
- Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organellesNature Genetics, 1996