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Article

Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.

Journal of pediatric hematology/oncology - 1 May 2021

Falcon Corey, Hamm Austin J, Li Geling, Lebensburger Jeffrey, Howard Thomas H, Xavier Ana C

Abstract excerpt

Inherited disorders of cobalamin (Cbl, vitamin B12) metabolism are rare causes of megaloblastic anemia and neurologic abnormalities. More prevalent in certain ethnic groups, these disorders occur despite adequate Cbl intake and usually result from abnormal vitamin cell transport or processing. Cubilin (CUBN, intrinsic factor-cobalamin receptor) is the intestinal receptor for the endocytosis of intrinsic...

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Identifiers

PMID: 33031161
DOI: 10.1097/MPH.0000000000001958

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.PMID 33031161Read ↗

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.Semantic proximity Read ↗

A frameshift mutation in the cubilin gene (<i><scp>CUBN</scp></i>) in <scp>B</scp>eagles with <scp>I</scp>merslund–<scp>G</scp>räsbeck syndrome (selective cobalamin malabsorption)Semantic proximity Read ↗

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)Semantic proximity Read ↗

Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.Semantic proximity Read ↗

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsSemantic proximity Read ↗

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Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Semantic proximity Read ↗

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.Semantic proximity Read ↗

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