Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.

Cassidy, Brett M; Zino, Sammy; Fjeld, Karianne; Molven, Anders; Lowe, Mark E; Xiao, Xunjun

Cassidy, Brett M; Zino, Sammy; Fjeld, Karianne; Molven, Anders; Lowe, Mark E; Xiao, Xunjun.

Afiliación

Cassidy BM; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Zino S; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Fjeld K; The Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Molven A; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Lowe ME; The Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Xiao X; Department of Pathology, Haukeland University Hospital, Bergen, Norway.

Hum Mutat ; 41(11): 1967-1978, 2020 11.

Article en En | MEDLINE | ID: mdl-32906201

Asunto(s)

Lipasa/genética; Pancreatitis Crónica/genética; Polimorfismo de Nucleótido Simple; Seudogenes; Alelos; Mutación con Ganancia de Función; Predisposición Genética a la Enfermedad; Células HEK293; Humanos; Mutación Missense; Pliegue de Proteína

Palabras clave

chronic pancreatitis; genetic variants; lipase; protein misfolding; single nucleotide polymorphisms

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Seudogenes / Polimorfismo de Nucleótido Simple / Pancreatitis Crónica / Lipasa Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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