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Article

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

Gene - 1 Jan 2013

Magnolo Lucia, Najah Mohamed, Fancello Tatiana, Di Leo Enza, Pinotti Elisa, Brini Ines, Gueddiche Neji M, Calandra Sebastiano, Slimene Naceur M, Tarugi Patrizia

Abstract excerpt

Monogenic hypobetalipoproteinemias include three disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) with recessive transmission and familial hypobetalipoproteinemia (FHBL) with dominant transmission. We investigated three unrelated Tunisian children born from consanguineous marriages, presenting hypobetalipoproteinemia associated with chronic diarrhea and retarded growth. Proband...

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Source

Identifiers

PMID: 23043934
DOI: 10.1016/j.gene.2012.09.117

Genes

MTTP
ANGPTL3
APOB
PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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