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Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
Authors:Laura Bozal-Basterra  Itziar Martín-Ruíz  Lucia Pirone  Yinwen Liang  Jón Otti Sigurðsson  Maria Gonzalez-Santamarta  Immacolata Giordano  Estibaliz Gabicagogeascoa  Angela de Luca  Jose A. Rodríguez  Andrew O.M. Wilkie  Jürgen Kohlhase  Deborah Eastwood  Christopher Yale  Jesper V. Olsen  Michael Rauchman  Kathryn V. Anderson  James D. Sutherland  Rosa Barrio
Affiliation:1. CIC bioGUNE, Bizkaia Technology Park, Building 801-A, 48160 Derio, Bizkaia, Spain;2. Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA;3. Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen, Denmark;4. Department of Genetics, Physical Anthropology, and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain;5. Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK;6. SYNLAB Center for Human Genetics Freiburg, Heinrich-von-Stephan-Straße 5, 79100 Freiburg, Germany;7. Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK;8. Ipswich Hospital NHS Trust, Heath Road, Ipswich IP4 5PD, Suffolk, UK;9. Saint Louis University School of Medicine, 1100 South Grand Boulevard, St. Louis, MO 63104, USA;10. VA St. Louis Health Care System, St. Louis, MO 63106, USA
Abstract:
Keywords:SALL1  spalt  BioID  primary cilia  rare disease  Townes-Brocks syndrome
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