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Complex genetic architecture in severe hypobetalipoproteinemia

BACKGROUND: Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively. Instances of more comple...

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Detalles Bibliográficos
Autores principales:	Wang, Linda R., McIntyre, Adam D., Hegele, Robert A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5853080/ https://www.ncbi.nlm.nih.gov/pubmed/29540175 http://dx.doi.org/10.1186/s12944-018-0680-1

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