L. Jensen

发表

Characterization of a disease‐causing Glu119‐Lys mutation in the low‐density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

L. Bolund, T. Jensen, B. Andresen, 1994, Human mutation.

Allele‐specific measurement of low‐density lipoprotein receptor transcript levels

L. Bolund, H. Eiberg, S. Kolvraa, 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.

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.

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.

A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene

L. Bolund, O. Faergeman, S. Kolvraa, 1994 .

A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene

L. Bolund, O. Faergeman, N. Gregersen, 1994 .

No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes.

O. Faergeman, N. Gregersen, M. L. Larsen, 2004, Atherosclerosis.

An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia

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

Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.

M. Nyegaard, A. Børglum, J. Hertz, 2011, International journal of paediatric dentistry.

imperfecta in a Danish five-gen Limited phenotypic variation of hypocalcified amelogenesis eration family with a novel FAM 83 H nonsense mutation

M. Nyegaard, J. Hertz, D. Haubek, 2011 .

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

O. Faergeman, M. L. Larsen, J. Jensen, 2005, Atherosclerosis.

Two mutations in the same low‐density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

L. Bolund, O. Faergeman, T. Jensen, 1997, Human mutation.

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

O. Faergeman, M. L. Larsen, P. Nissen, 2005, BMC Medical Genetics.

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.

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

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

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

L. Bolund, N. Gregersen, H. Nissen, 1996, Human mutation.