Associated Papers
A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
Rodríguez Gutiérrez PG et al.
Journal of Clinical Laboratory Analysis, 2021
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Magnolo L et al.
Gene, 2013
Abetalipoproteinemia: two case reports and literature review.
Zamel R et al.
Orphanet Journal of Rare Diseases, 2008
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
Wang J et al.
Human Mutation, 2000
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
Vlasschaert C et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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