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Results: 2

1.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.

Am J Hum Genet. 2007 Nov;81(5):1098-103. Epub 2007 Sep 26.

PMID:
17924349
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.

Utz VM, Beight CD, Marino MJ, Hagstrom SA, Traboulsi EI.

Ophthalmic Genet. 2013 Dec;34(4):183-8. doi: 10.3109/13816810.2012.762932. Epub 2013 Jan 23. Review.

PMID:
23343310
[PubMed - indexed for MEDLINE]

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