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Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Gilbert, Melissa A; Schultz-Rogers, Laura; Rajagopalan, Ramakrishnan; Grochowski, Christopher M; Wilkins, Benjamin J; Biswas, Sawona; Conlin, Laura K; Fiorino, Kristin N; Dhamija, Radhika; Pack, Michael A; Klee, Eric W; Piccoli, David A; Spinner, Nancy B.
Afiliación
  • Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.
  • Rajagopalan R; Department of Health Sciences, Mayo Clinic, Rochester, Minnesota.
  • Grochowski CM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Wilkins BJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Biswas S; Division of Anatomic Pathology, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Conlin LK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Fiorino KN; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Dhamija R; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Pack MA; The Suzi and Scott Lustgarten Center for GI Motility, Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Klee EW; Department of Medical Genetics, Mayo Clinic, Phoenix, Arizona.
  • Piccoli DA; Division of Gastroenterology, Department of Medicine, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Spinner NB; Department of Cell and Developmental Biology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Hum Mutat ; 41(5): 973-982, 2020 05.
Article en En | MEDLINE | ID: mdl-31944481
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Cadenas Pesadas de Miosina / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Músculo Liso / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Cadenas Pesadas de Miosina / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Músculo Liso / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article