BLOC-2 complex member HPS5 isoform X2 [Homo sapiens]

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Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. [Platelets. 2018]
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK, Nichols WL. Platelets. 2018 Jan; 29(1):91-94. Epub 2017 Nov 1.
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. [PLoS One. 2017]
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, et al. PLoS One. 2017; 12(3):e0173682. Epub 2017 Mar 15.
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. [J AAPOS. 2014]
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Summers CG, Schimmenti LA, Sperber S. J AAPOS. 2014 Apr; 18(2):209-10.

RefSeq genomic sequence
See the genomic reference sequence for the HPS5 gene (NG_008877.1).
RefSeq mRNA
See reference mRNA sequence for the HPS5 gene (XM_054367552.1).
RefSeq protein isoforms
See 58 reference sequence protein isoforms for the HPS5 gene.

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Protein