Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codominant familial hypobetalipoproteinemia (FHBL), the rare recessive conditions abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD). Approximately 50% of FHBL patients are carriers of mutations in the APOB gene, mostly causing the formation of truncated forms of ApoB. In some kindred, FHBL is linked to a locus on chromosome 3 (3p21), but the candidate gene is still unknown: Recently, a FHBL-like phenotype was observed in carriers of mutations of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene causing loss-of-function of the encoded protein, a proprotein convertase that regulates LDL-receptor number in the liver. Inact...
Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linked to apo...
AbstractFamilial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linke...
OBJECTIVE: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulati...
Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codomina...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced...
International audienceBACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant ...
Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition characte...
We report the clinical phenotype in three kindreds with familial heterozygous hypobetalipoproteinemi...
The role of the apolipoprotein B (apoB) gene in the pathogenesis of two familial hypocholesterolaemi...
International audienceFamilial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder chara...
Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare diseases that cause ...
Homozygous familial hypobetalipoproteinaemia (Ho-FHBL) is a rare co-dominant disorder characterized ...
Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linked to apo...
AbstractFamilial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linke...
OBJECTIVE: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulati...
Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codomina...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (A...
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced...
International audienceBACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant ...
Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition characte...
We report the clinical phenotype in three kindreds with familial heterozygous hypobetalipoproteinemi...
The role of the apolipoprotein B (apoB) gene in the pathogenesis of two familial hypocholesterolaemi...
International audienceFamilial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder chara...
Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare diseases that cause ...
Homozygous familial hypobetalipoproteinaemia (Ho-FHBL) is a rare co-dominant disorder characterized ...
Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linked to apo...
AbstractFamilial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linke...
OBJECTIVE: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulati...