Génétique des rétinites pigmentaires : classification métabolique et corrélations phénotype/génotype
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference161 articles.
1. Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France;Puech;J Fr Ophtalmol,1991
2. Retinitis pigmentosa;Berson;Invest Ophthalmol Vis Sci,1993
3. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci;Kajiwara;Science,1994
4. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder;Katsanis;Science,2001
5. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MITS2 gene;Mansergh;Am J Hum Genet,1999
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