[Identification of ATP7B gene variant by combined use of Sanger sequencing, array CGH and quantitative PCR].

Abstract excerpt

OBJECTIVE: To identify the type and origin of ATP7B gene mutation in a family affected with Wilson disease by combined use of multiple methods. METHODS: Peripheral blood samples were collected from the proband, her parents and her brother. Sanger sequencing were used to detect point mutation and small deletion/insertion of the 21 exons and flanking sequences of the ATP7B gene in all family members. Array-based...

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