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- 1998
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Mark
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response
(
- Contribution to journal › Article
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Two stable unfolding intermediates of the disease-causing L68Q variant of human cystatin C
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- Contribution to journal › Article
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Structural basis for different inhibitory specificities of human cystatins C and D
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- Contribution to journal › Article
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Mark
Cystatin F is a glycosylated human low molecular weight cysteine proteinase inhibitor
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- Contribution to journal › Article
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Mark
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
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- Contribution to journal › Article
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Mark
Intracellular accumulation of the amyloidogenic L68Q variant of cystatin C in NIH/3T3 cells
(
- Contribution to journal › Article
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Mark
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
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- Contribution to journal › Article
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Mark
Amino acid substitutions in the N-terminal segment of cystatin C create selective inhibitors of lysosomal cysteine proteinases
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- Contribution to journal › Article
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Mark
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system
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- Contribution to journal › Article
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Mark
Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype
(
- Contribution to journal › Article