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Article

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.

Journal of inherited metabolic disease - 1 Nov 2007

Vongsuvanh R, Hooper A J, Coakley J C, Macdessi J S, O'Loughlin E V, Burnett J R, Gaskin K J

Abstract excerpt

Abetalipoproteinaemia (ABL) and homozygous familial hypobetalipoproteinaemia (FHBL) are rare inherited disorders associated with low or undetectable levels of apolipoprotein B (apoB)-containing lipoproteins. Patients present with the symptoms and sequelae of fat malabsorption, including fat-soluble vitamin deficiencies. We describe two novel mutations: one an APOB gene mutation causing FHBL and the other a...

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Source

Identifiers

PMID: 18027103
DOI: 10.1007/s10545-007-0693-9

Genes

APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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