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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2009-2-2
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pubmed:abstractText |
Abetalipoproteinemia (ABL) and Homozygous Familial Hypobetalipoproteinemia (Ho-FHBL) are rare monogenic diseases characterised by very low plasma levels of cholesterol and triglyceride and the absence or a great reduction of apolipoprotein B (apoB)-containing lipoproteins. ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1873-3492
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pubmed:author |
pubmed-author:BarsaouiSihemS,
pubmed-author:BriniInesI,
pubmed-author:Di LeoEnzaE,
pubmed-author:FekihMoncefM,
pubmed-author:ImeneJgurimJ,
pubmed-author:JelassiAwatefA,
pubmed-author:MagnoloLuciaL,
pubmed-author:MahjoubBahriB,
pubmed-author:NajahMohamedM,
pubmed-author:PinottiElisaE,
pubmed-author:SlimaneMohamed NaceurMN,
pubmed-author:TarugiPatriziaP
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pubmed:issnType |
Electronic
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pubmed:volume |
401
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
51-6
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pubmed:meshHeading |
pubmed-meshheading:19056372-Abetalipoproteinemia,
pubmed-meshheading:19056372-Adolescent,
pubmed-meshheading:19056372-Adult,
pubmed-meshheading:19056372-Aged,
pubmed-meshheading:19056372-Aged, 80 and over,
pubmed-meshheading:19056372-Alleles,
pubmed-meshheading:19056372-Apolipoproteins B,
pubmed-meshheading:19056372-Carrier Proteins,
pubmed-meshheading:19056372-Child,
pubmed-meshheading:19056372-Child, Preschool,
pubmed-meshheading:19056372-Exons,
pubmed-meshheading:19056372-Female,
pubmed-meshheading:19056372-Genotype,
pubmed-meshheading:19056372-Humans,
pubmed-meshheading:19056372-Hypobetalipoproteinemia, Familial, Apolipoprotein B,
pubmed-meshheading:19056372-Infant,
pubmed-meshheading:19056372-Introns,
pubmed-meshheading:19056372-Male,
pubmed-meshheading:19056372-Middle Aged,
pubmed-meshheading:19056372-Mutation,
pubmed-meshheading:19056372-Pedigree,
pubmed-meshheading:19056372-Tunisia,
pubmed-meshheading:19056372-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
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pubmed:affiliation |
Research Unit of Genetic and Biologic Factors of Atherosclerosis, Faculty of Medicine, Monastir, Tunisia.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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