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- 1999
-
Mark
Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa
Jacobson, S G ; Cideciyan, A V ; Bascom, R A ; Ponjavic, Vesna LU ; Abrahamson, Magnus LU
; Ekström, Ulf
LU
; Andréasson, Sten
LU
; Ehinger, Berndt
LU
; Sheffield, V C
and McInnes, R R
, et al.
(1999)
In Digital Journal of Ophthalmology
5(6).
- Contribution to journal › Article
-
Mark
Expression of a selenomethionine derivative and preliminary crystallographic studies of human cystatin C
Kozak, M ; Jankowska, E ; Janowski, R ; Grzonka, Z ; Grubb, Anders LU
; Alvarez-Fernandez, M
; Abrahamson, Magnus
LU
and Jaskolski, M
(1999)
In Acta Crystallographica. Section D: Biological Crystallography
55(11).
p.1939-1942
- Contribution to journal › Article
- 1998
-
Mark
Cystatin F is a glycosylated human low molecular weight cysteine proteinase inhibitor
Ni, J ; Alvarez Fernandez, Marcia LU ; Danielsson, Lena ; Chillakuru, R A ; Zhang, J ; Grubb, Anders LU
; Su, J
; Gentz, R
and Abrahamson, Magnus
LU
(1998)
In Journal of Biological Chemistry
273(38).
p.24797-24804
- Contribution to journal › Article
-
Mark
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response
Ekström, Ulf LU ; Abrahamson, Magnus LU
; Wallmark, Anders
LU
; Florén, Claes-Henrik
LU
and Nilsson-Ehle, Peter
LU
(1998)
In European Journal of Clinical Investigation
28(9).
p.740-747
- Contribution to journal › Article
-
Mark
Two stable unfolding intermediates of the disease-causing L68Q variant of human cystatin C
- Contribution to journal › Article
-
Mark
Structural basis for different inhibitory specificities of human cystatins C and D
Hall, Anders ; Ekiel, I ; Mason, RW ; Kasprzykowski, F ; Grubb, Anders LU
and Abrahamson, Magnus
LU
(1998)
In Biochemistry
37(12).
p.4071-4079
- Contribution to journal › Article
-
Mark
Intracellular accumulation of the amyloidogenic L68Q variant of cystatin C in NIH/3T3 cells
Bjarnadottir, M ; Wulff, B ; Keppler, D ; Moin, K ; Sloane, B ; Grubb, A and Abrahamson, Magnus LU
(1998)
In Molecular Pathology
51(6).
p.317-326
- Contribution to journal › Article
-
Mark
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
Ekström, Ulf LU ; Ponjavic, Vesna LU ; Abrahamson, Magnus LU
; Nilsson-Ehle, Peter
LU
; Andréasson, Sten
LU
; Stenström, Ingeborg
and Ehinger, Berndt
LU
(1998)
In Ophthalmic Genetics
19(1).
p.27-37
- Contribution to journal › Article
-
Mark
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system
Ekström, Ulf LU ; Ponjavic, Vesna LU ; Andréasson, Sten LU ; Ehinger, Berndt LU
; Nilsson-Ehle, Peter
LU
and Abrahamson, Magnus
LU
(1998)
In Molecular Pathology
51(5).
p.287-291
- Contribution to journal › Article
-
Mark
Amino acid substitutions in the N-terminal segment of cystatin C create selective inhibitors of lysosomal cysteine proteinases
Mason, R W ; Sol-Church, K and Abrahamson, Magnus LU
(1998)
In Biochemical Journal
330(2).
p.833-838
- Contribution to journal › Article