Associated Papers
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK et al.
Orphanet Journal of Rare Diseases, 2023
37710296 (PubMed )
Supplement: 13023_2023_2889_MOESM2_ESM.xlsx › Tabel_artikel
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption.
Larsen C et al.
Nature Communications, 2018
30523278 (PubMed )
Supplement: 41467_2018_7468_MOESM2_ESM.pdf
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
Udagawa T et al.
Scientific Reports, 2018
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testing.
Gräsbeck R et al.
Pediatric Research, 2011
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
Tanner SM et al.
Human Mutation, 2004
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
Tanner SM et al.
Nature Genetics, 2003
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