TRPM1, un nouveau gène impliqué dans la cécité nocturne congénitale stationnaire
Author:
Publisher
EDP Sciences
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://www.medecinesciences.org/10.1051/medsci/2010263241/pdf
Reference11 articles.
1. Audo I, Kohl S, Leroy BP,et al.TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Am J Hum Genet2009; 85 : 720–9.
2. Li Z, Sergouniotis PI, Michaelides M,et al.Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.Am J Hum Genet2009; 85 : 711–9.
3. van Genderen MM, Bijveld MM, Claassen YB,et al.Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.Am J Hum Genet2009; 85 : 730–6.
4. Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction.Survey Ophthalmol2008; 53 : 16–40.
5. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification.Arch Ophthalmol1986; 104 : 1013–20.
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1. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions includingTRPM1: A differential diagnosis of ceroid lipofuscinosis;American Journal of Medical Genetics Part A;2014-03-25
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