Literature DB >> 15611318

Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy.

András Jánosi, Hajnalka Andrikovics, Katalin Vas, András Bors, Márta Hubay, Zoltán Sápi, Attila Tordai.   

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Year:  2005        PMID： 15611318     DOI： 10.1182/blood-2004-09-3508

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  4 in total

1.  Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.

Authors:  Shufeng Li; Jun Xue; Baojun Chen; Qiwei Wang; Minke Shi; Xiaojing Xie; Liang Zhang
Journal:  Int J Hematol       Date:  2014-03-02       Impact factor: 2.490

Review 2.  Non-HFE haemochromatosis.

Authors:  Daniel-F Wallace; V-Nathan Subramaniam
Journal:  World J Gastroenterol       Date:  2007-09-21       Impact factor: 5.742

Review 3.  Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.

Authors:  Amanda B Core; Susanna Canali; Jodie L Babitt
Journal:  Front Pharmacol       Date:  2014-05-13       Impact factor: 5.810

Review 4.  Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Authors:  Xiaomu Kong; Lingding Xie; Haiqing Zhu; Lulu Song; Xiaoyan Xing; Wenying Yang; Xiaoping Chen
Journal:  Orphanet J Rare Dis       Date:  2019-07-08       Impact factor: 4.123
  4 in total

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