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Article

Identification and characterization of a novel splice-site mutation in the Wilson disease gene.

Journal of the neurological sciences - 15 Oct 2014

Diao Sheng-Peng, Hong Ming-Fan, Huang Ye-Qing, Wei Zhi-Sheng, Su Quan-Xi, Peng Zhong-Xing, Yu Qing-Yun, Liu Ai-Qun, Chen Jin, Hu Li

Abstract excerpt

This study aimed to identify aberrant transcripts of the new splice-site mutation c.3244-2A>C in the Wilson disease (WD) gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) and discuss its genotype and clinical phenotype. DNA and RNA were extracted from peripheral blood lymphocytes, amplified by polymerase chain reaction (PCR) and nested reverse transcription PCR (RT-nested PCR) to characterize the aberrant...

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Identifiers

PMID: 25086856
DOI: 10.1016/j.jns.2014.07.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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