P. Hansen

发表

Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G→A splice site mutation in the low‐density lipoprotein receptor gene

L. Bolund, S. Kolvraa, N. Gregersen, 1999, Clinical genetics.

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease

L. Bolund, O. Faergeman, N. Gregersen, 1995, Clinical genetics.

Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia.

L. Bolund, O. Faergeman, N. Gregersen, 1991, European journal of biochemistry.

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation

L. Bolund, O. Faergeman, F. Melsen, 1996, Clinical genetics.

A G‐1‐to‐A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia

L. Bolund, O. Faergeman, N. Gregersen, 1996, Clinical genetics.

Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low‐density lipoprotein receptor gene are associated with familial hypercholesterolemia

N. Gregersen, O. Færgeman, L. Jensen, 1996, Human mutation.

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

O. Faergeman, N. Gregersen, P. Hansen, 1999, Atherosclerosis.

An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia

O. Faergeman, N. Gregersen, P. Hansen, 1996, Clinical genetics.

Flow cytometric assessment of LDL ligand function for detection of heterozygous familial defective apolipoprotein B-100.

O. Faergeman, B. Raungaard, P. Hansen, 2000, Clinical chemistry.

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

O. Faergeman, N. Gregersen, P. Hansen, 1996, Clinical chemistry.

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.

O. Faergeman, N. Gregersen, P. Hansen, 1994, Atherosclerosis.