Literature DB >> 8781450

A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.

P Aguilar-Martinez, C Biron, C Masmejean, P Jeanjean, J F Schved.   

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Year:  1996        PMID： 8781450

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


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  4 in total

Review 1.  Recent advance in molecular iron metabolism: translational disorders of ferritin.

Authors:  Junji Kato; Yoshiro Niitsu
Journal:  Int J Hematol       Date:  2002-10       Impact factor: 2.490

2.  Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.

Authors:  Muriel Giansily-Blaizot; Séverine Cunat; Grégory Moulis; Jean-François Schved; Patricia Aguilar-Martinez
Journal:  Haematologica       Date:  2013-01-08       Impact factor: 9.941

Review 3.  Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Authors:  Gunda Millonig; Martina U Muckenthaler; Sebastian Mueller
Journal:  Hum Genomics       Date:  2010-04       Impact factor: 4.639

Review 4.  "Pumping iron"-how macrophages handle iron at the systemic, microenvironmental, and cellular levels.

Authors:  Manfred Nairz; Igor Theurl; Filip K Swirski; Guenter Weiss
Journal:  Pflugers Arch       Date:  2017-03-01       Impact factor: 3.657
  4 in total

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