Literature DB >> 9414313

Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.

A D Mumford, T Vulliamy, J Lindsay, A Watson.   

Abstract

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Year:  1998        PMID: 9414313

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


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  6 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.  The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin.

Authors:  A D Mumford; I A Cree; J D Arnold; M C Hagan; K C Rixon; J J Harding
Journal:  Br J Ophthalmol       Date:  2000-07       Impact factor: 4.638

3.  A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

Authors:  E Héon; A D Paterson; M Fraser; G Billingsley; M Priston; A Balmer; D F Schorderet; A Verner; T J Hudson; F L Munier
Journal:  Am J Hum Genet       Date:  2001-02-05       Impact factor: 11.025

4.  Mutation analysis of the ferritin L-chain gene in age-related cataract.

Authors:  Nurit Assia; Nitza Goldenberg-Cohen; Gideon Rechavi; Ninette Amariglio; Yoram Cohen
Journal:  Mol Vis       Date:  2010-11-24       Impact factor: 2.367

Review 5.  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 6.  Conservation in the Iron Responsive Element Family.

Authors:  Karl Volz
Journal:  Genes (Basel)       Date:  2021-08-30       Impact factor: 4.096

  6 in total

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