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Year | Number of Results |
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1996 | 1 |
1998 | 1 |
2003 | 1 |
2005 | 1 |
2024 | 0 |
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Page 1
Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.
Br J Haematol. 2003 Oct;123(1):132-8. doi: 10.1046/j.1365-2141.2003.04557.x.
Br J Haematol. 2003.
PMID: 14510955
Free article.
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y.
Ito S, et al.
J Invest Dermatol. 2005 Oct;125(4):715-20. doi: 10.1111/j.0022-202X.2005.23884.x.
J Invest Dermatol. 2005.
PMID: 16185271
Free article.
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Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA.
Oh J, et al.
Am J Hum Genet. 1998 Mar;62(3):593-8. doi: 10.1086/301757.
Am J Hum Genet. 1998.
PMID: 9497254
Free PMC article.
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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA.
Oh J, et al.
Nat Genet. 1996 Nov;14(3):300-6. doi: 10.1038/ng1196-300.
Nat Genet. 1996.
PMID: 8896559
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