Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

BACKGROUND: Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficien...

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Detalles Bibliográficos
Autores principales: Najah, Mohamed, Youssef, Sarraj Mohamed, Yahia, Hrira Mohamed, Afef, Slimani, Awatef, Jelassi, Saber, Hammami, Fadhel, Najjar Mohamed, Sassolas, Agnès, Naceur, Slimane Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3632489/
https://www.ncbi.nlm.nih.gov/pubmed/23556456
http://dx.doi.org/10.1186/1746-1596-8-54

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