1997
DOI: 10.1007/s004390050622
|View full text |Cite
|
Sign up to set email alerts
|

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

Abstract: X-linked juvenile retinoschisis (RS) is a progressive vitreoretinal degeneration localised in Xp22.1-p22.2. A human homologue of the retinal degeneration gene C (rdgC), a gene that in Drosophila melanogaster prevents light-induced retinal degeneration, was localised in the RS obligate gene region. We have tested the gene, designated PPEF in humans, as a candidate gene in RS patients using RT-PCR and the protein truncation test on RNA and SSCP on DNA. No mutations were identified, making it highly unlikely that… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Year Published

1998
1998
1999
1999

Publication Types

Select...
3

Relationship

0
3

Authors

Journals

citations
Cited by 3 publications
references
References 17 publications
0
0
0
Order By: Relevance