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A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT.
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- Journal of Clinical Immunology, 2022, v. 42, n. 2, p. 404, doi. 10.1007/s10875-021-01189-y
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- Article
Serglycin expression during monocytic differentiation of U937–1 cells.
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- Glycobiology, 1998, v. 8, n. 8, p. 747, doi. 10.1093/glycob/8.8.747
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- Article
Cloning and Characterization of Two Forms of Bovine Polymeric Immunoglobulin Receptor cDNA.
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- DNA & Cell Biology, 1995, v. 14, n. 3, p. 251, doi. 10.1089/dna.1995.14.251
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- Article
Cloning and Characterization of the Bovine Immunoglobulin J Chain cDNA and Its Promoter Region.
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- DNA & Cell Biology, 1994, v. 13, n. 1, p. 37, doi. 10.1089/dna.1994.13.37
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- Article
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
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- Journal of Human Genetics, 2010, v. 55, n. 10, p. 676, doi. 10.1038/jhg.2010.87
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- Article
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.
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- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1551, doi. 10.1093/hmg/ddl077
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- Article
Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.
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- FEBS Journal, 2008, v. 275, n. 16, p. 4121, doi. 10.1111/j.1742-4658.2008.06553.x
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- Article
Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9.
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- Journal of Cellular Physiology, 2008, v. 217, n. 2, p. 459, doi. 10.1002/jcp.21519
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- Article
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
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- Human Molecular Genetics, 2023, v. 32, n. 4, p. 580, doi. 10.1093/hmg/ddac225
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- Article
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
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- 2015
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- Correction Notice
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131637
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- Article
The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR.
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- Acta Biochimica et Biophysica Sinica, 2009, v. 41, n. 3, p. 246, doi. 10.1093/abbs/gmp008
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- Article