Volume 11, Issue S1 pp. S117-S120
Mutation in Brief
Free Access

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Dr. Roser Torra

Corresponding Author

Dr. Roser Torra

Servei de Nefrologia, Hospital Clínic, Villarroel 170, 08036 Barcelona, Spain

Servei de Genètica, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain

Servei de Nefrologia y Genètica, Hospital Clí nic, Villarroel 170, 08036 Barcelona, Spain; Fax: 3-2275444Search for more papers by this author
Cèlia Badenas

Cèlia Badenas

Servei de Genètica, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain

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Belén Peral

Belén Peral

MRC Molecular Hematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom

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Alejandro Darnell

Alejandro Darnell

Servei de Nefrologia, Hospital Clínic, Villarroel 170, 08036 Barcelona, Spain

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Eduard Serra

Eduard Serra

Servei de Genètica, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain

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Vicki Gamble

Vicki Gamble

MRC Molecular Hematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom

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Alberto E. Turco

Alberto E. Turco

Institute of Biology and Genetics, University of Verona School of Medicine, 37134 Verona, Italy

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Peter C. Harris

Peter C. Harris

MRC Molecular Hematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom

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Xavier Estivill

Xavier Estivill

Servei de Genètica, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain

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First published: 28 April 2011
Citations: 12
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