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- 2000
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Mark
Expression of an LDL receptor allele with two different mutations (E256K and I402T)
(
- Contribution to journal › Article
- 1999
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Mark
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
(
- Contribution to journal › Article
- 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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Mark
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
(
- 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
(
- 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
(
- Contribution to journal › Article
- 1995
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Mark
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia
(
- Contribution to journal › Article