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Article

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

Orphanet journal of rare diseases - 28 Aug 2012

Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert

Abstract excerpt

BACKGROUND: Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecularly studied to date. Recessive mutations in CUBN or...

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Source

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Identifiers

PMID: 22929189
DOI: 10.1186/1750-1172-7-56
PMCID: PMC3462684

Genes

AMN
CUBN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22929189-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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