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- databases for immunodeficiency-causing variations |
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SLC35C1base mutation publications
Search PubMed latest citations for SLC35C1 mutations
2010
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Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.
Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, Garty BZ
J Clin Immunol 2010(2): 308-13
[PubMed abstract].
2006
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Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.
Helmus Y, Denecke J, Yakubenia S, Robinson P, Lühn K, Watson DL, McGrogan PJ, Vestweber D, Marquardt T, Wild MK
Blood 2006(10): 3959-66
[PubMed abstract].
2003
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Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene.
Hidalgo A, Ma S, Peired AJ, Weiss LA, Cunningham-Rundles C, Frenette PS
Blood 2003(5): 1705-12
[PubMed abstract].
2002
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Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, Hirschberg CB, Tonetti M
Am J Med Genet 2002(2): 131-5
[PubMed abstract].
2001
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The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter.
Lühn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D
Nat Genet 2001(1): 69-72
[PubMed abstract].
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Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C
Nat Genet 2001(1): 73-6
[PubMed abstract].
1998
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Leukocyte adhesion deficiency type II: long-term follow-up.
Etzioni A, Gershoni-Baruch R, Pollack S, Shehadeh N
J Allergy Clin Immunol 1998(2): 323-4
[PubMed abstract].
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