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DE NOVO MUTATION IN A CHOROIDEREMIA CARRIER.
- Source :
- Retinal Cases & Brief Reports; Summer2007, Vol. 1 Issue 3, p182-184, 3p, 4 Diagrams
- Publication Year :
- 2007
-
Abstract
- The article reports on a de novo gene mutation in a woman which showed the clinical characteristics of choroidemia (CHM). A single base-pair sequence mutation was observed in codon 293 in exon 7 (R293X) of the CHM gene in the proband. This mutation was not present in her clinically unaffected parents.
- Subjects :
- CHOROID diseases
GENETIC mutation
GENETIC disorders
MEDICAL genetics
EYE diseases
Subjects
Details
- Language :
- English
- ISSN :
- 19351089
- Volume :
- 1
- Issue :
- 3
- Database :
- Supplemental Index
- Journal :
- Retinal Cases & Brief Reports
- Publication Type :
- Academic Journal
- Accession number :
- 25947299
- Full Text :
- https://doi.org/10.1097/ICB.0b013e31804d1de0