Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

@article{Tschernutter2006ClinicalCO,
  title={Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.},
  author={Marion Tschernutter and Sharon A. Jenkins and Naushin H. Waseem and Zubin Saihan and G. E. Holder and Alan C. Bird and Shomi Shanker Bhattacharya and Robin R Ali and Andrew R. Webster},
  journal={The British journal of ophthalmology},
  year={2006},
  volume={90 6},
  pages={718-23}
}
BACKGROUND/AIM MERTK, a tyrosine kinase receptor protein expressed by the retinal pigment epithelium (RPE), is mutated in both rodent models and humans affected by retinal disease. This study reports a survey of families for Mertk mutations and describes the phenotype exhibited by one family. METHODS 96 probands with retinal dystrophy, consistent with autosomal recessive segregation, were screened by direct sequencing. A family homozygous for a likely null allele was investigated clinically… CONTINUE READING
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