Hemochromatosis with Mutation of the Ferroportin 1 (IREG1) Gene

LIU Weidong; SHIMOMURA Souji; IMANISHI Hiroyasu; IWAMOTO Yuna; IKEDA Naoto; SAITO Masaki; OHNO Masao; HARA Naoki; YAMAMOTO Tetsuo

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J-GLOBAL ID：200902292522796940 Reference number：05A0376563

Hemochromatosis with Mutation of the Ferroportin 1 (IREG1) Gene

フェロポルチン1(IREG1)遺伝子の突然変異を伴う血色素症

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Material：
Volume： 44 Issue： 4 Page： 285-289 Publication year： Apr. 2005
JST Material Number： Z0157B ISSN： 0918-2918 Document type： Article
Article type：短報 Country of issue： Japan (JPN) Language： ENGLISH (EN)

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Congenital diseases,deformities in general.

Reference (15)：

1) Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13: 399-408, 1996.
2) Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 64: 1388-1393, 1999.
3) Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25: 14-15, 2000.
4) Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28: 213-214, 2001.
5) Kato J, Fujikawa K, Kanda M, et al. A mutation in the iron-response element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 69: 191-197, 2001.

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