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Journal Abstract Search


395 related items for PubMed ID: 26493561

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  • 14. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
    Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.
    Hum Mol Genet; 2000 Sep 01; 9(14):2107-16. PubMed ID: 10958649
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  • 19. Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
    Wawrocka A, Kohl S, Baumann B, Walczak-Sztulpa J, Wicher K, Skorczyk-Werner A, Krawczynski MR.
    Mol Vis; 2014 Sep 01; 20():1732-9. PubMed ID: 25558176
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  • 20. Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
    Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P.
    Int J Mol Sci; 2021 Jul 22; 22(15):. PubMed ID: 34360608
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