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Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
Eur J Hum Genet. 2010 Jan;18(1):118-24. doi: 10.1038/ejhg.2009.114.
Eur J Hum Genet. 2010.
PMID: 19584904
Free PMC article.
Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.
Pomares E, et al. Among authors: andres gutierrez a.
Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208. Epub 2009 Jun 10.
Invest Ophthalmol Vis Sci. 2009.
PMID: 19516003
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