Condition: Megaloblastic Anemia 1


rs1555381485 in AMN gene and Megaloblastic Anemia 1 PMID 22929189 2012 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

PMID 12590260 2003 Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

PMID 30523278 2018 Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption.

PMID 26040326 2015 Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

PMID 29402915 2018 Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.

PMID 22631584 2012 Imerslund-Gräsbeck syndrome: new mutation in amnionless.

rs121434430 in CUBN gene and Megaloblastic Anemia 1 PMID 10080186 1999 Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

PMID 10887099 2000 Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B(12) receptor, cubilin.

PMID 15024727 2004 Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 22929189 2012 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.