Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11
Ethnic Differences in Iron Status.
Kang W et al.
Advances in Nutrition (bethesda, Md.), 2021
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
de Lima Santos PC et al.
Genetic Testing and Molecular Biomarkers, 2010
HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
Barton JC et al.
American Journal of Hematology, 2009
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Mendes AI et al.
Annals of Hematology, 2009
Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.
Murugan RC et al.
Clinical Genetics, 2008
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
Barton JC et al.
Bmc Medical Genetics, 2004
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
Lee PL et al.
British Journal of Haematology, 2004
SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.
Barton JC et al.
Blood Cells, Molecules & Diseases, 0
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