Volume 11, Issue S1 pp. S25-S27
Mutation in Brief
Free Access

Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

Jerome R. Lo Ten Foe

Jerome R. Lo Ten Foe

Department of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, the Netherlands

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Frank A.E. Kruyt

Frank A.E. Kruyt

Department of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, the Netherlands

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Marjolein B.M. Zweekhorst

Marjolein B.M. Zweekhorst

Department of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, the Netherlands

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Gerard Pals

Gerard Pals

Department of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, the Netherlands

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Rachel A. Gibson

Rachel A. Gibson

Division of Medical and Molecular Genetics, UMDS Guy's Hospital, London SE1 9RT, UK

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Christopher G. Mathew

Christopher G. Mathew

Division of Medical and Molecular Genetics, UMDS Guy's Hospital, London SE1 9RT, UK

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Hans Joenje

Hans Joenje

Department of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, the Netherlands

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Fré Arwert

Corresponding Author

Fré Arwert

Department of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, the Netherlands

Dept. of Human Genetics, Free University of Amsterdam, NL-1081 BT Amsterdam, The NetherlandsSearch for more papers by this author
First published: 28 April 2011
Citations: 4
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