Mutations in CUBN, encoding the intrinsic factor-vitamin B 12 receptor, cubilin, cause hereditary megaloblastic anaemia 1


Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms that may be the only manifestations. At the cellular level, MGA1 is characterized by selective intestinal vitamin B12 (B12, cobalamin) malabsorption. MGA1 occurs worldwide, but its prevalence… (More)
DOI: 10.1038/6831


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