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A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
Kelsen, Judith R; Dawany, Noor; Martinez, Alejandro; Martinez, Alejuandro; Grochowski, Christopher M; Maurer, Kelly; Rappaport, Eric; Piccoli, David A; Baldassano, Robert N; Mamula, Petar; Sullivan, Kathleen E; Devoto, Marcella.
Afiliação
  • Kelsen JR; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Kelsen@email.chop.edu.
  • Dawany N; 7NW, Division of Pediatric Gastroenterology, 3400 Civic Center Blvd, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. Kelsen@email.chop.edu.
  • Martinez A; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Dawanyn@email.chop.edu.
  • Grochowski CM; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. martinezad@email.chop.edu.
  • Maurer K; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. grochowskic@email.chop.edu.
  • Rappaport E; Division of Immunology and Allergy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. dietzmann@email.chop.edu.
  • Piccoli DA; Nucleic Acid/PCR Core, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Rappaport@email.chop.edu.
  • Baldassano RN; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. piccoli@email.chop.edu.
  • Mamula P; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Baldassano@email.chop.edu.
  • Sullivan KE; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. mamula@email.chop.edu.
  • Devoto M; Division of Immunology and Allergy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sullivank@email.chop.edu.
BMC Gastroenterol ; 15: 160, 2015 Nov 18.
Article em En | MEDLINE | ID: mdl-26581487
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Inflamatórias Intestinais / Deleção de Genes / Doenças Genéticas Ligadas ao Cromossomo X / Exoma / Transtornos Linfoproliferativos Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Inflamatórias Intestinais / Deleção de Genes / Doenças Genéticas Ligadas ao Cromossomo X / Exoma / Transtornos Linfoproliferativos Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article