Article
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Nature genetics - 1 Mar 1999
Aminoff M, Carter J E, Chadwick R B, Johnson C, Gräsbeck R, Abdelaal M A, Broch H, Jenner L B, Verroust P J, Moestrup S K, de la Chapelle A, Krahe R
Abstract excerpt
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 is higher in several Middle Eastern countries and Norway,...
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