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Year | Number of Results |
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PubMed (cited) for id: 614077
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A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.
Pigment Cell Melanoma Res. 2012.
PMID: 22709368
Free PMC article.
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER.
Morgan NV, et al.
Am J Hum Genet. 2006 Jan;78(1):160-6. doi: 10.1086/499338. Epub 2005 Nov 28.
Am J Hum Genet. 2006.
PMID: 16385460
Free PMC article.
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Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
Starcevic M, Dell'Angelica EC.
Starcevic M, et al.
J Biol Chem. 2004 Jul 2;279(27):28393-401. doi: 10.1074/jbc.M402513200. Epub 2004 Apr 21.
J Biol Chem. 2004.
PMID: 15102850
Free article.
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