IMPDH1 (RP10)
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-10867-4_38
Reference15 articles.
1. Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002;11(5):559–68.
2. Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006;47(1):34–42.
3. Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Invest Ophthalmol Vis Sci. 2005;46(5):1735–41.
4. McGuire RE, Gannon AM, Sullivan LS, Rodriguez JA, Daiger SP. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum Genet. 1995;95(1):71–4.
5. Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils DM, Kumar-Singh R, et al. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet. 1993;4(1):54–8.
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