Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings

Abetalipoproteinemia (ABL) is a rare recessive condition caused by biallelic loss-of-function mutations in the MTTP gene encoding the microsomal triglyceride transfer protein large subunit. ABL is characterized by absence of apolipoprotein B–containing lipoproteins and deficiencies in fat-soluble vi...

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Detalles Bibliográficos
Autores principales: Vlasschaert, Caitlyn, McIntyre, Adam D., Thomson, Lauren A., Kennedy, Brooke A., Ratko, Suzanne, Prasad, Chitra, Hegele, Robert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182224/
https://www.ncbi.nlm.nih.gov/pubmed/34078172
http://dx.doi.org/10.1177/23247096211022484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182224/
https://www.ncbi.nlm.nih.gov/pubmed/34078172
http://dx.doi.org/10.1177/23247096211022484

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