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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
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 |