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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1996 | 1 |
2002 | 1 |
2003 | 1 |
2005 | 2 |
2024 | 0 |
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5 results
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Page 1
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
Hum Mutat. 2002 Dec;20(6):482. doi: 10.1002/humu.9097.
Hum Mutat. 2002.
PMID: 12442288
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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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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Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.
González-Conejero R, Rivera J, Escolar G, Zuazu-Jausoro I, Vicente V, Corral J.
González-Conejero R, et al.
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.
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Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.
Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA.
Griffin AE, et al.
Clin Genet. 2005 Jul;68(1):23-30. doi: 10.1111/j.1399-0004.2005.00461.x.
Clin Genet. 2005.
PMID: 15952982
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