| 1 | HIDS, MVK
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| Hyper-IgD syndrome with novel mutation in a Japanese girl.
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| Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S.
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| Mod Rheumatol 19(1):96-9. doi: 10.1007/s10165-008-0130-4. Epub 2008 Oct 22.
2009
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| 2 | HIDS, MVK, MVKD
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| MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
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| D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I.
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| Eur J Hum Genet 13(3):314-20. 2005
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| 3 | HIDS, MVK, MVKD, TNFRSF1A, TRAPS
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| Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
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| Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kery A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.
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| Arthritis Rheum 50(6):1951-8. 2004
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| 4 | HIDS, MVK, MVKD
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| Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
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| Cuisset L, Drenth JP, Simon A, Vincent MF, van Der Velde Visser S, van Der Meer JW, Grateau G, Delpech M.
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| Eur J Hum Genet 9(4):260-6. 2001
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| 5 | HIDS, MVK, MVKD
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| Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
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| Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR.
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| Eur J Hum Genet 9(4):253-9. 2001
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| 6 | HIDS, MVK, MVKD
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| Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
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| Houten SM, et al.
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| Nat Genet 22(2):175-7. 1999
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| 7 | HIDS, MVK, MVKD
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| Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
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| Drenth JP, et al.
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| Nat Genet 22(2):178-81. 1999
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