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10. Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4. Chen SR; Yang LQ; Chong YT; Jie YS; Wu YK; Yang J; Lin GL; Li XH Intern Med J; 2015 Jun; 45(6):672-6. PubMed ID: 26059880 [TBL] [Abstract][Full Text] [Related]
12. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. Majore S; Bonaccorsi di Patti MC; Valiante M; Polticelli F; Cortese A; Di Bartolomeo S; De Bernardo C; De Muro M; Faienza F; Radio FC; Grammatico P; Musci G Biochim Biophys Acta Mol Basis Dis; 2018 Feb; 1864(2):464-470. PubMed ID: 29154924 [TBL] [Abstract][Full Text] [Related]
13. Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent. Gérolami V; Le Gac G; Mercier L; Nezri M; Bergé-Lefranc JL; Férec C Haematologica; 2008 May; 93(5):e45-6. PubMed ID: 18450729 [No Abstract] [Full Text] [Related]
14. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Sham RL; Phatak PD; West C; Lee P; Andrews C; Beutler E Blood Cells Mol Dis; 2005; 34(2):157-61. PubMed ID: 15727899 [TBL] [Abstract][Full Text] [Related]
15. Of metals, mice, and men: what animal models can teach us about body iron loading. Anderson GJ; Powell LW J Clin Invest; 2000 May; 105(9):1185-6. PubMed ID: 10791991 [No Abstract] [Full Text] [Related]
16. Inherited disorders of iron metabolism. Födinger M; Sunder-Plassmann G Kidney Int Suppl; 1999 Mar; 69():S22-34. PubMed ID: 10084283 [TBL] [Abstract][Full Text] [Related]
18. [Usefulness of a diagnostic algorithm hyperferritinemia: A case report of a Spanish family with hereditary hemochromatosis and mutation in SLC40A1 gene]. Vargas JA; Muñoz A; Samper B; Bornstein B Med Clin (Barc); 2015 Jul; 145(1):42-3. PubMed ID: 25441019 [No Abstract] [Full Text] [Related]
19. Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. Barton JC; Beutler E; Gelbart T Blood; 1998 Dec; 92(11):4480. PubMed ID: 9882097 [No Abstract] [Full Text] [Related]
20. [Progress in the study of molecular genetics of iron metabolism]. Niitsu Y Nihon Naika Gakkai Zasshi; 2000 Apr; 89(4):768-73. PubMed ID: 10876938 [No Abstract] [Full Text] [Related] [Next] [New Search]