Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

@article{Keen2003IdentificationOA,
  title={Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36},
  author={T. Jeffrey Keen and M. Dorgham Mohamed and Martin McKibbin and Yasmin Rashid and Hussain Ali Jafri and Irene Hussels Maumenee and Chris F. Inglehearn},
  journal={European Journal of Human Genetics},
  year={2003},
  volume={11},
  pages={420-423}
}
Leber's congenital amaurosis (LCA) is the most common cause of inherited childhood blindness and is characterised by severe retinal degeneration at or shortly after birth. We have identified a new locus, LCA9, on chromosome 1p36, at which the disease segregates in a single consanguineous Pakistani family. Following a whole genome linkage search, an autozygous region of 10 cM was identified between the markers D1S1612 and D1S228. Multipoint linkage analysis generated a lod score of 4.4, strongly… CONTINUE READING
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