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
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis
✍ Scribed by Katja-Martina Eckl; Peter Krieg; Wolfgang Küster; Heiko Traupe; Françoise André; Nadine Wittstruck; Gerhard Fürstenberger; Hans Christian Hennies
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 340 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1059-7794
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