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Hermansky-Pudlak syndrome 1/HPS1 mutation
Pathology:
- see Hermansky-Pudlak syndrome
Genetics:
- associated with frameshift mutations in HPS1
Database Correlations
OMIM 203300
References
- Oh J et al.
Positional cloning of a gene for Hermansky-Pudlak syndrome,
a disorder of cytoplasmic organelles.
Nat Genet. 1996 Nov;14(3):300-6.
PMID: 8896559