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Annual Review of Pathology|April 30, 2009
Regulation of hepcidin and iron-overload diseasePauline L Lee, Ernest BeutlerActa Haematologica|January 21, 2006
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792RPauline L Lee, James C BartonBlood Cells, Molecules & Diseases|March 17, 2006
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinomaJames C Barton, Pauline L LeeActa Haematologica|May 16, 2012
Mild iron overload in an African American man with SLC40A1 D270VPauline L Lee, Terry Gaasterland, James C BartonJournal of Negative Results in Biomedicine|April 13, 2006
Genetic polymorphisms and susceptibility to lung diseasePauline L Lee, Carol West, Karen Crain, et al.British Journal of Haematology|October 6, 2004
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosisPauline L Lee, James C Barton, David Brandhagen, et al.Blood Cells, Molecules & Diseases|November 6, 2004
The mitochondrial nt 16189 polymorphism and hereditary hemochromatosisErnest Beutler, Lisa Beutler, Pauline L Lee, et al.Acta Haematologica|December 28, 2007
SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotypePauline L Lee, Terri Gelbart, Carol West, et al.Blood Cells, Molecules & Diseases|May 11, 2007
SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descentJames C Barton, Ronald T Acton, Pauline L Lee, et al.Blood|February 26, 2004
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelinPauline L Lee, Ernest Beutler, Sreenivas V Rao, et al.Pageof 2