International audienceBACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB). Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species. METHODS: Here, we applied targeted enrichment and next-generation sequencing (NGS) on a panel of three FHBL genes and two abetalipoproteinemia genes (APOB, PCSK9, ANGPTL3, MTTP and SAR1B). RESULTS: In this study, we identified five likely pathogenic heterozygous rare variants. These include four novel nonsense mutations in APOB (p.Gln845*, p.Gln2571*, p.Cys2933* and p.Ser3718*...
Familial hypercholesterolemia (FH) is clinically characterized by increased levels of circulating LD...
Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein m...
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by ve...
International audienceBACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant ...
BACKGROUND AND OBJETIVE: Familial hypobetalipoproteinemia (FHB) is usually due to mutations in the A...
International audienceFamilial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder chara...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codomina...
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concen...
Introduction: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid me...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition characte...
Familial hypobetalipoproteinemia (FHBL), an auto-somal co-dominant disorder, is associated with re-d...
© 2015 Elsevier Ireland Ltd. Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codomin...
Abstract Extremely low LDL-cholesterol concentrations are very unusual and generally related with c...
Familial hypercholesterolemia (FH) is clinically characterized by increased levels of circulating LD...
Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein m...
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by ve...
International audienceBACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant ...
BACKGROUND AND OBJETIVE: Familial hypobetalipoproteinemia (FHB) is usually due to mutations in the A...
International audienceFamilial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder chara...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codomina...
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concen...
Introduction: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid me...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition characte...
Familial hypobetalipoproteinemia (FHBL), an auto-somal co-dominant disorder, is associated with re-d...
© 2015 Elsevier Ireland Ltd. Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codomin...
Abstract Extremely low LDL-cholesterol concentrations are very unusual and generally related with c...
Familial hypercholesterolemia (FH) is clinically characterized by increased levels of circulating LD...
Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein m...
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by ve...