Hermansky-Pudlak syndrome 1/HPS1 mutation

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Pathology

see Hermansky-Pudlak syndrome

Genetics

associated with frameshift mutations in HPS1

More general terms

Hermansky-Pudlak syndrome

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: https://www.ncbi.nlm.nih.gov/pubmed/8896559

Database

OMIM: https://mirror.omim.org/entry/203300

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