The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32

Open Access

Peer-reviewed

Research Article

Elvir Becirovic,

Affiliation Munich Center for Integrated Protein Science CIPSM and Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany
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Kostadinka Nakova,

Affiliation Munich Center for Integrated Protein Science CIPSM and Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany
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Verena Hammelmann,

Affiliation Munich Center for Integrated Protein Science CIPSM and Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany
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Roman Hennel,

Affiliation Munich Center for Integrated Protein Science CIPSM and Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany
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Martin Biel,

Affiliation Munich Center for Integrated Protein Science CIPSM and Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany
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Stylianos Michalakis

* E-mail: michalakis@lmu.de

Affiliation Munich Center for Integrated Protein Science CIPSM and Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany
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Exon trapping
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Retinitis pigmentosa
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Frameshift mutation
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Mutation
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Photoreceptors
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Polymerase chain reaction
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Transfection
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Introns
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