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1996 | 1 |
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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Nat Genet. 2003 Sep;35(1):84-9. doi: 10.1038/ng1229. Epub 2003 Aug 17.
Nat Genet. 2003.
PMID: 12923531
Free PMC article.
Multiplexed protein profiling on microarrays by rolling-circle amplification.
Schweitzer B, Roberts S, Grimwade B, Shao W, Wang M, Fu Q, Shu Q, Laroche I, Zhou Z, Tchernev VT, Christiansen J, Velleca M, Kingsmore SF.
Schweitzer B, et al.
Nat Biotechnol. 2002 Apr;20(4):359-65. doi: 10.1038/nbt0402-359.
Nat Biotechnol. 2002.
PMID: 11923841
Free PMC article.
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The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.
Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT.
Zhang Q, et al.
Hum Mol Genet. 2002 Mar 15;11(6):697-706. doi: 10.1093/hmg/11.6.697.
Hum Mol Genet. 2002.
PMID: 11912185
Free PMC article.
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Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF.
Barbosa MD, et al.
Hum Mol Genet. 1997 Jul;6(7):1091-8. doi: 10.1093/hmg/6.7.1091.
Hum Mol Genet. 1997.
PMID: 9215680
Free PMC article.
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Identification of the homologous beige and Chediak-Higashi syndrome genes.
Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF.
Barbosa MD, et al.
Nature. 1996 Jul 18;382(6588):262-5. doi: 10.1038/382262a0.
Nature. 1996.
PMID: 8717042
Free PMC article.
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