[Identification of a novel missense mutation in Wilson disease gene].

Article

[Identification of a novel missense mutation in Wilson disease gene].

Zhonghua yi xue za zhi - 1 May 1997

Yang R, Fan Y, Yu L

Abstract excerpt

OBJECTIVE: To investigate the allelic heterogeneity of ATP 7 B gene in Chinese patients. METHODS: Exons of ATP7B gene from patient's DNA were amplified with PCR technique. Mutations were screened by single strand conformation polymorphism (SSCP) analysis and further confirmed by sequencing. RESUL...

Topics

Adolescent
Adult
Alleles
Base Sequence
Child
Exons
Female
Hepatolenticular Degeneration
Humans
Male
Molecular Sequence Data
Mutation, Missense
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

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