| 1 | B2M, IMD43
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| β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.
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| Ardeniz Ö, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerçeker B, Martin B, Fuchs I, Salzer U, İkincioğulları A, Güloğlu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K.
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| J Allergy Clin Immunol 136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19.
2015
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| 2 | AFHR, B2M
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| Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
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| Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, Touchard G, Goujon JM, Lacombe C, Lozeron P, Adams D, Lacroix C, Maisonobe T, Planté-Bordeneuve V, Vrana JA, Theis JD, Giorgetti S, Porcari R, Ricagno S, Bolognesi M, Stoppini M, Delpech M, Pepys MB, Hawkins PN, Bellotti V.
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| N Engl J Med 366(24):2276-83. doi: 10.1056/NEJMoa1201356.
2012
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| 3 | B2M, PCOLCE
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| Procollagen C-proteinase enhancer-1 (PCPE-1) interacts with beta2-microglobulin (beta2-m) and may help initiate beta2-m amyloid fibril formation in connective tissues.
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| Morimoto H, Wada J, Font B, Mott JD, Hulmes DJ, Ookoshi T, Naiki H, Yasuhara A, Nakatsuka A, Fukuoka K, Takatori Y, Ichikawa H, Akagi S, Nakao K, Makino H.
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| Matrix Biol 27(3):211-9. Epub 2007 Nov 28. 2008
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| 4 | HFE, B2M
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| The hereditary hemochromatosis protein HFE and its chaperone beta2-microglobulin localise predominantly to the endosomal-recycling compartment.
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| Bhatt L, Horgan CP, Walsh M, McCaffrey MW.
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| Biochem Biophys Res Commun 359(2):277-84. Epub 2007 May 24. 2007
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| 5 | B2M, HFE
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| Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis.
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| Walker AP, et al.
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| J Med Genet 36(7):537-41. 1999
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| 6 | B2M
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| Mutations of the beta2-microglobulin gene result in a lack of HLA class I molecules on melanoma cells of two patients immunized with MAGE peptides.
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| Benitez R, et al.
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| Tissue Antigens 52(6):520-9. 1998
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| 7 | B2M, CAPN3, LGMD2A, SORD, FDPSL4
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| A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
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| Chiannilkulchai N, et al.
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| Hum Mol Genet 4 : 717-725. 1995
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| 8 | B2M
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| RFLPs for beta-2-microglobulin.
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| Nicholls RD, et al.
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| Nucleic Acids Res 17 : 10141. 1989
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| 9 | B2M
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| Tumoral amyloidosis of bone of beta-2-microglobulin origin in association with long-term hemodialysis: a new type of amyloid disease.
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| Casey TT, et al.
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| Hum Pathol 17 : 731-738. 1986
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| 10 | B2M
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| A new form of amyloid protein associated with chronic hemodialysis was identified as beta-2-microglobulin.
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| Gejyo F, et al.
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| Biochem Biophys Res Commun 129 : 701-706. 1985
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| 11 | B2M
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| Somatic cell genetic analysis of HLA-A,B,C and human beta-2-microglobulin expression.
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| Lamarck ME, et al.
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| Somatic Cell Genet 8 : 385-402. 1982
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| 12 | B2M, HEXA, MPI, PKM
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| Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase and pyruvate kinase to the region q22-qter of human chromosome 15.
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| Chern CJ, et al.
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| Somatic Cell Genet 3 : 553-560. 1977
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| 13 | B2M
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| Beta-2-microglobulin locus on human chromosome 15.
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| Faber HB, et al.
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| Somatic Cell Genet 2 : 141-153. 1976
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| 14 | B2M
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| The beta-2-microglobulin gene is on chromosome 15 and not in the HL-A region.
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| Goodfellow PN, et al.
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| Nature 254 : 267-269. 1975
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