1. |
|
|
2. |
|
|
3. |
- Bauer, S, et al.
(author)
-
Phenotype in a Swedish family with X-linked retinitis pigmentosa caused by a novel splice defect in the RPGR gene
- 1998
-
In: Investigative Ophthalmology & Visual Science. - 1552-5783. ; 39:12, s. 2470-2474
-
Journal article (peer-reviewed)abstract
- PURPOSE: To assess the clinical phenotype in a Swedish family with X- linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene. METHODS: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically. RESULTS: The causative mutation in the family was demonstrated to be a single base-pair change at the splice donor site in intron 7 that resulted in skipping of the complete exon 7 in the mature RPGR transcript. The aberrant mRNA is predicted to produce an RPGR protein with an in-frame deletion of 53 amino acids, corresponding to an RCC1-homology repeat. Clinical studies that included ophthalmological examination and full-field electroretinography showed that this splice mutation resulted in a comparatively less severe form of RP. CONCLUSIONS: Correlation of a causative RPGR genotype with clinical findings in hemizygotes and carrier heterozygotes is an important step toward predictive diagnosis and should assist in the development of gene-based therapies in the future.
|
|
4. |
- Martin, S, et al.
(author)
-
Zero tolerance laws: effective public policy?
- 1996
-
In: Alcoholism, clinical and experimental research. - : Wiley. - 0145-6008 .- 1530-0277. ; 20:88 Suppl, s. A147-A150
-
Journal article (other academic/artistic)
|
|
5. |
|
|
6. |
- Allebeck, P, et al.
(author)
-
Drug induced psychosis
- 1996
-
In: The British journal of psychiatry : the journal of mental science. - : Royal College of Psychiatrists. - 0007-1250. ; 169:1, s. 114-115
-
Journal article (other academic/artistic)
|
|
7. |
|
|
8. |
|
|
9. |
- Andreasson, S
(author)
-
Alcohol and J-shaped curves
- 1998
-
In: Alcoholism, clinical and experimental research. - 0145-6008. ; 22:77 Suppl, s. 359S-364S
-
Journal article (peer-reviewed)
|
|
10. |
|
|