Open Access Highly Accessed Research article

Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient

Håkan Thonberg1*, Marie Fallström1, Jenny Björkström1, Jacqueline Schoumans23, Inger Nennesmo4 and Caroline Graff15

Author Affiliations

1 Genetics Unit, Dept of Geriatric Medicine, Karolinska University Hospital, Huddinge, Sweden

2 Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden

3 Cancer Cytogenetic Unit, University Hospital of Lausanne, Switzerland

4 Department of Pathology, Karolinska University Hospital, Huddinge, Sweden

5 Department of Neurobiology, Care Sciences and Society (NVS), Karolinska Institutet, KI-Alzheimer Disease Research Center, Stockholm, Sweden

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BMC Research Notes 2011, 4:476  doi:10.1186/1756-0500-4-476

Published: 1 November 2011

Additional files

Additional file 1:

Table showing classification of the 22 cases of AD according to their family history with table legend.

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Additional file 2:

Schematic picture of the APP locus with surrounding genes with figure legend.

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Additional file 3:

Table showing nucleotide variations found in the 22 DNA samples for sequencing of APP, PSEN1, and PSEN2 with table legend.

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Additional file 4:

Method and result of on In-silico analysis of nucleotide variation IVS6 +9 and.

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