Article
X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?
Human genetics - 1 Oct 1993
Friedrich U, Warburg M, Jørgensen A L
Abstract excerpt
In a large family with X-linked retinitis pigmentosa 2 (XLRP2), we reexamined 7 obligate carrier females and 6 daughters of obligate carriers, whose linkage relationships suggested that they carried the XLRP2 gene. The phenotype varied from totally normal eyes through mild retinal changes to comp...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- DNA
- DNA Probes
- Evaluation Studies as Topic
- Female
- Genetic Linkage
- Humans
- Male
- Methylation
- Middle Aged
- Pedigree
- Phenotype
- Prognosis
- Retinitis Pigmentosa
- X Chromosome