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Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa

✍ Scribed by Ksantini, Mohamed; Lafont, Estèle; Bocquet, Béatrice; Meunier, Isabelle; Hamel, Christian P.


Book ID
120346777
Publisher
Wichtig Editore
Year
2012
Tongue
English
Weight
440 KB
Volume
22
Category
Article
ISSN
1120-6721

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Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In