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   SLC35C1base
   Variation registry for  Leukocyte adhesion deficiency I I (LAD-II)


SLC35C1base mutation publications

[2010] [2006] [2003] [2002] [2001] [1998]

Search PubMed latest citations for SLC35C1 mutations

    2010

  • 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

  • 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

  • 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

  • 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

  • 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].

  • 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

  • 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].