A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
Korean Journal of Ophthalmology
;
: 62-64, 2006.
Article
in English
| WPRIM
| ID: wpr-72708
ABSTRACT
PURPOSE:
To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.METHODS:
Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.RESULTS:
A novel Leu103Phe missense mutation was identified.CONCLUSIONS:
A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA
/
Photoreceptor Cells, Vertebrate
/
Mutation, Missense
/
Retinoschisis
/
Eye Proteins
/
Korea
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Korean Journal of Ophthalmology
Year:
2006
Type:
Article
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