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Open Access
Peer-reviewed
Research Article
Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene
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Valerio Pazienza ,
Contributed equally to this work with: Valerio Pazienza, Annamaria la Torre
Affiliation Gastroenterology, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Annamaria la Torre ,
Contributed equally to this work with: Valerio Pazienza, Annamaria la Torre
Affiliation Laboratory of Oncology, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Filomena Baorda,
Affiliation Medical Genetics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Michela Alfarano,
Affiliation Medical Genetics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Massimiliano Chetta,
Affiliation Department of Molecular Biology, Molecular Stamping (Fondazione Bruno Kessler), Povo (TN), Italy
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Lucia Anna Muscarella,
Affiliation Laboratory of Oncology, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Claudia Battista,
Affiliation Endocrinology, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Massimiliano Copetti,
Affiliation Unit of Biostatistics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Dieter Kotzot,
Affiliation Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
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Klaus Kapelari,
Affiliation Clinical Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria
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Dalia Al-Abdulrazzaq,
Current address: Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait
Affiliation Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada
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Kusiel Perlman,
Affiliation Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada
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Etienne Sochett,
Affiliation Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada
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David E. C. Cole,
Affiliation Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Ontario, Canada
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Fabio Pellegrini,
Affiliation Laboratory of Clinical Epidemiology of Diabetes and Chronic Diseases, Consorzio Mario Negri Sud, Santa Maria Imbaro (CH), Italy
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Lucie Canaff,
Affiliation Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, Canada
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Geoffrey N. Hendy,
Affiliation Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, Canada
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Leonardo D’Agruma,
Affiliation Medical Genetics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Leopoldo Zelante,
Affiliation Medical Genetics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Massimo Carella,
Affiliation Medical Genetics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Alfredo Scillitani,
Affiliation Endocrinology, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Vito Guarnieri
* E-mail: v.guarnieri@operapadrepio.it
Affiliation Medical Genetics, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy
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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene
- Valerio Pazienza,
- Annamaria la Torre,
- Filomena Baorda,
- Michela Alfarano,
- Massimiliano Chetta,
- Lucia Anna Muscarella,
- Claudia Battista,
- Massimiliano Copetti,
- Dieter Kotzot,
- Klaus Kapelari
- Published: December 5, 2013
- https://doi.org/10.1371/journal.pone.0082292