Heterozygous familial hypercholesterolaemia in a pair of identical twins: A case report and updated review

Heterozygous familial hypercholesterolaemia in a pair of identical twins: A case report and updated review

Background: Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c), leading to premature coronary artery di...

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Bibliographic Details
Main Authors: Al-Khateeb, A.M (Author), Chua, Y.-A (Author), Mohd Kasim, N.A (Author), Mohd Nawawi, H. (Author), Mohd Nor, N.S (Author)
Format: Article
Language:English
Published: BioMed Central Ltd. 2019
Subjects:
ABC transporter G5
ABC transporter G8
ABCG5 gene
ABCG8
ABCG8 gene
ABCG8 protein, human
adult
Adult
APOB100 gene
APOE gene
apolipoprotein B100
apolipoprotein E
Article
ATP Binding Cassette Transporter, Subfamily G, Member 8
blood
case report
child
Child
clinical article
clinical feature
Coronary artery disease
disease severity
Diseases in Twins
DNA
dna mutational analysis
DNA Mutational Analysis
DNA sequence
exon
Familial hypercholesterolaemia
familial hypercholesterolemia
female
Female
genetic screening
Genetic Testing
genetic variability
genetics
heterozygote
human
Humans
Hyperlipoproteinemia Type II
intron
LDLR
LDLR gene
LDLR protein, human
LDLRAP1 gene
lipid analysis
low density lipoprotein receptor
male
Male
metabolism
middle aged
Middle Aged
missense mutation
monozygotic twins
Mutation, Missense
mutator gene
next generation sequencing
PCSK9 gene
pedigree
Pedigree
phenotype
Phenotype
Premature atherosclerosis
procedures
proprotein convertase 9
Receptors, LDL
school child
twin study
twins
Twins, Monozygotic
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