Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease.

Xu, Anjian; Lv, Tingxia; Zhang, Bei; Zhang, Wei; Ou, Xiaojuan; Huang, Jian

Xu, Anjian; Lv, Tingxia; Zhang, Bei; Zhang, Wei; Ou, Xiaojuan; Huang, Jian.

Xu A; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Lv T; National Clinical Research Center for Digestive Disease, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Zhang B; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Zhang W; National Clinical Research Center for Digestive Disease, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Ou X; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Huang J; National Clinical Research Center for Digestive Disease, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

J Clin Lab Anal ; 31(4)2017 Jul.

Article en En | MEDLINE | ID: mdl-27638368

Asunto(s)

ATPasas Transportadoras de Cobre/genética; Análisis Mutacional de ADN/métodos; Degeneración Hepatolenticular/genética; Sondas Moleculares/genética; Humanos; Desnaturalización de Ácido Nucleico; Reacción en Cadena de la Polimerasa; Reproducibilidad de los Resultados

Palabras clave

ATP7B; Wilson's disease; genotype; mutation detection; unlabeled probe HRM

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Sondas Moleculares / ATPasas Transportadoras de Cobre / Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article

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