Literature DB >> 11375302

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.

U B Rüfenacht1, A Gregor, L Gouya, S Tarczynska-Nosal, X Schneider-Yin, J C Deybach.   

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Year:  2001        PMID： 11375302

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  2 in total

Review 1.  Mechanisms of mammalian iron homeostasis.

Authors:  Kostas Pantopoulos; Suheel Kumar Porwal; Alan Tartakoff; L Devireddy
Journal:  Biochemistry       Date:  2012-07-09       Impact factor: 3.162

2.  Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.

Authors:  Victoria E Parera; Rita H Koole; Gardi Minderman; Annie Edixhoven; Maria V Rossetti; Alcira Batlle; Felix W M de Rooij
Journal:  Mol Med       Date:  2009-08-12       Impact factor: 6.354
  2 in total

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