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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert, Melissa A; Bauer, Robert C; Rajagopalan, Ramakrishnan; Grochowski, Christopher M; Chao, Grace; McEldrew, Deborah; Nassur, James A; Rand, Elizabeth B; Krock, Bryan L; Kamath, Binita M; Krantz, Ian D; Piccoli, David A; Loomes, Kathleen M; Spinner, Nancy B.
Afiliación
  • Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Bauer RC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Grochowski CM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Chao G; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • McEldrew D; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Nassur JA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Rand EB; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Krock BL; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Kamath BM; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hospital for Sick Children and the University of Toronto, Toronto, Canada.
  • Krantz ID; Division of Human Genetics, Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Piccoli DA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Loomes KM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Spinner NB; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Hum Mutat ; 40(12): 2197-2220, 2019 12.
Article en En | MEDLINE | ID: mdl-31343788
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Alagille / Mutación Missense / Receptor Notch2 / Proteína Jagged-1 / Mutación con Pérdida de Función Tipo de estudio: Guideline Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Alagille / Mutación Missense / Receptor Notch2 / Proteína Jagged-1 / Mutación con Pérdida de Función Tipo de estudio: Guideline Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article