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2013 | 1 |
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NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883.
Nat Genet. 2011.
PMID: 21765412
Free PMC article.
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA.
Nesterova G, et al.
Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4.
Clin J Am Soc Nephrol. 2013.
PMID: 23293122
Free PMC article.
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