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Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype
Authors:Arnaud Boulling  Hao Wu  Prachand Issarapu  Seema Bhaskar  Emmanuelle Génin  David N Cooper  Zhao‐Shen Li  Giriraj R Chandak  Zhuan Liao  Jian‐Min Chen  Claude Férec
Institution:1. Institut National de la Santé et de la Recherche Médicale (INSERM), Brest, France;2. Etablissement Fran?ais du Sang (EFS) – Bretagne, Brest, France;3. Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France;4. Department of Gastroenterology, Changhai Hospital, The Second Military Medical University, Shanghai, China;5. Shanghai Institute of Pancreatic Diseases, Shanghai, China;6. Genomic Research on Complex Diseases (GRC Group), CSIR‐Centre for Cellular and Molecular Biology, Hyderabad, India;7. Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom;8. Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire (CHRU) Brest, H?pital Morvan, Brest, France
Abstract:
Keywords:chronic pancreatitis  enhancer  promoter reporter gene assay  regulatory variants  SPINK1 gene
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