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Results: 2

1.

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C.

PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.

PMID:
23144630
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.

Audo I, Bujakowska K, Mohand-Saïd S, Lancelot ME, Moskova-Doumanova V, Waseem NH, Antonio A, Sahel JA, Bhattacharya SS, Zeitz C.

BMC Med Genet. 2010 Oct 12;11:145. doi: 10.1186/1471-2350-11-145. Review.

PMID:
20939871
[PubMed - indexed for MEDLINE]
Free PMC Article

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