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- Kohl, S, et al.
(författare)
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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2. |
- Bishop, Lev S., et al.
(författare)
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Proposal for generating and detecting multi-qubit GHZ states in circuit QED
- 2009
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Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 11, s. 073040-
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Tidskriftsartikel (refereegranskat)abstract
- We propose methods for the preparation and entanglement detectionof multi-qubit Greenberger–Horne–Zeilinger (GHZ) states in circuit quantumelectrodynamics. Using quantum trajectory simulations appropriate for thesituation of a weak continuous measurement, we show that the joint dispersivereadout of several qubits can be utilized for the probabilistic production ofhigh-fidelity GHZ states. When employing a nonlinear filter on the recordedhomodyne signal, the selected states are found to exhibit values of theBell–Mermin operator exceeding 2 under realistic conditions. We discuss thepotential of the dispersive readout to demonstrate a violation of the Merminbound, and present a measurement scheme avoiding the necessity for fulldetector tomography.
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