A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

Grahn, Ammi; Bengtson, Per; Eklund, Erik; Asin-Cayuela, Jorge

Grahn, Ammi; Bengtson, Per; Eklund, Erik; Asin-Cayuela, Jorge.

Afiliación

Grahn A; Department of Clinical Chemistry, Sahlgrenska University Hospital, Sahlgrenska Academy, Bruna Stråket 16, SE 413 45 Gothenburg, Sweden.
Bengtson P; Department of Clinical Chemistry, Skåne University Hospital, Klinikgatan 19, SE 221 85 Lund, Sweden.
Eklund E; Department of Clinical Sciences, Lund University, BMC D12, SE 221 84 Lund, Sweden.
Asin-Cayuela J; Department of Clinical Chemistry, Sahlgrenska University Hospital, Sahlgrenska Academy, Bruna Stråket 16, SE 413 45 Gothenburg, Sweden. Electronic address: Jorge.asin.cayela@vgregion.se.

Clin Biochem ; 49(6): 511-513, 2016 Apr.

Article en En | MEDLINE | ID: mdl-26656560

Asunto(s)

Consumo de Bebidas Alcohólicas; Mutación; Isoformas de Proteínas/genética; Transferrina/genética; Adulto; Glicosilación; Humanos; Masculino

Palabras clave

Alcohol abuse; CDG (congenital disorder of glycosylation); CDT (carbohydrate-deficient transferrin); HPLC (high-performance liquid chromatography); Mass spectrometry; Transferrin

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Consumo de Bebidas Alcohólicas / Transferrina / Isoformas de Proteínas / Mutación Límite: Adult / Humans / Male Idioma: En Revista: Clin Biochem Año: 2016 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Estados Unidos

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