Ulf Ekström
Titel
Överläkare
Organisation
046-173460
Ulf [dot] Ekstrom [at] med [dot] lu [dot] se
Publikationer (hämtat ur Lunds universitets publikationsdatabas)
författare
- 2013
- 2010
- 2008
- 2004
- 2003
- 2002
- 2001
- 2000
- 1999
- An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
- An individual with healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
- Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa
- Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study).
- 1998
- A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
- Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system
- Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response
- Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
- 1996
- 1995
- 1994
