A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity

• Michael Wilschanski ,

  * E-mail: michaelwil@hadassah.org.il

  Affiliation Gastroenterology Unit, Division of Pediatrics, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Montaser Abbasi,

  Affiliation Gastroenterology Unit, Division of Pediatrics, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Elias Blanco,

  Affiliations Department of Anatomy and Neurobiology, University of Maryland-Baltimore, Baltimore, Maryland, United States of America, Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America

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• Iris Lindberg,

  Affiliation Department of Anatomy and Neurobiology, University of Maryland-Baltimore, Baltimore, Maryland, United States of America

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• Michael Yourshaw,

  Affiliation Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America

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• David Zangen,

  Affiliation Endocrinology Unit, Division of Pediatrics, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Itai Berger,

  Affiliation Neurology Unit, Division of Pediatrics, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Eyal Shteyer,

  Affiliation Gastroenterology Unit, Division of Pediatrics, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Orit Pappo,

  Affiliation Department of Pathology, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Benjamin Bar-Oz,

  Affiliation Department of Neonatology, Hadassah Hebrew University Hospital, Jerusalem, Israel

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• Martin G. Martín,

  Affiliation Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America

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• Orly Elpeleg

  Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Hospital, Jerusalem, Israel

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