Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

@article{Sohocki2000PrevalenceOA,
  title={Prevalence of AIPL1 mutations in inherited retinal degenerative disease.},
  author={Melanie Michelle Sohocki and Isabelle Perrault and Bart P Leroy and Annette M. Payne and Sharola Dharmaraj and Shomi Shanker Bhattacharya and Josseline Kaplan and Irene Hussels Maumenee and Robert Koenekoop and Françoise M. Meire and David G.W. Birch and John R. Heckenlively and Stephen P. Daiger},
  journal={Molecular genetics and metabolism},
  year={2000},
  volume={70 2},
  pages={
          142-50
        }
}
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other forms of LCA. We recently identified the gene associated with LCA4, AIPL1 (aryl-hydrocarbon interacting protein-like 1) and identified three mutations… CONTINUE READING
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