1 – 10 of 12
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2009
-
Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
- 1999
-
Mark
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
(
- Contribution to journal › Article
- 1998
-
Mark
A 50-year perspective of a family with chromosome 14-linked Alzheimer’s disease
(
- Contribution to journal › Article
- 1997
-
Mark
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region, but splice defects in two families
(
- Contribution to journal › Article
- 1995
-
Mark
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia
(
- Contribution to journal › Article
- 1993
-
Mark
An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism
(
- Contribution to journal › Article
-
Mark
A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level
(
- Contribution to journal › Article
- 1992
-
Mark
A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene
(
- Contribution to journal › Article
-
Mark
PCR assay for a polymorphic Dde I site in the promoter region of the human cystatin C gene (CST3)
(
- Contribution to journal › Article
-
Mark
Hereditary cystatin C amyloid angiopathy: Identification of the disease causing mutation and specific diagnosis by polymerase chain reaction based analysis
(
- Contribution to journal › Article