BLOC-3 complex member HPS1 isoform i [Homo sapiens]

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Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. [Respir Res. 2021]
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K, Hagiwara M, Gotoh S. Respir Res. 2021 Nov 4; 22(1):284. Epub 2021 Nov 4.
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. [Int J Mol Cell Med. 2016]
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family.
Ghafouri-Fard S, Hashemi-Gorji F, Yassaee VR, Alipour N, Miryounesi M. Int J Mol Cell Med. 2016 Summer; 5(3):192-195. Epub 2016 Jul 3.
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. [Mol Genet Metab. 2015]
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F. Mol Genet Metab. 2015 Jan; 114(1):62-5. Epub 2014 Nov 12.

RefSeq genomic sequence
See the genomic reference sequence for the HPS1 gene (NG_009646.1).
RefSeq mRNA
See reference mRNA sequence for the HPS1 gene (NM_001322483.2).
RefSeq protein isoforms
See 35 reference sequence protein isoforms for the HPS1 gene.

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Protein