J Truffert
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View article: Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method Open
To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR)…
View article: An Initiation Codon Mutation in the ApoC-II Gene (ApoC-II Paris) of a Patient with a Deficiency of Apolipoprotein C-II
An Initiation Codon Mutation in the ApoC-II Gene (ApoC-II Paris) of a Patient with a Deficiency of Apolipoprotein C-II Open
We have identified the genetic defect that leads to a deficiency of apoC-II in the proband from the Paris kindred. Analysis of the apoC-IIParis DNA by Southern blot hybridization revealed no major gene rearrangements, but sequencing of pol…
View article: Direct fetal blood examination for prenatal diagnosis of homozygous familial hypercholesterolemia.
Direct fetal blood examination for prenatal diagnosis of homozygous familial hypercholesterolemia. Open
Prenatal diagnosis of homozygous hypercholesterolemia was achieved at the 24th week of gestation by analysis of lipid values in a fetal blood sample obtained by a needle guided by ultrasound. These abnormal values were compared to values i…