Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report-Reference-Cited by-同舟云学术

Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report

Published:2012-04 Issue:2 Volume:26 Page:63-65
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Zappu Antonietta,Lepori Maria Barbara,Incollu Simona,Dessì Valentina,Noli Maria Cristina,Mameli Eva,Bonafé Luisa,Garcia Dépraz Nuria,De Virgiliis Stefano,Cao Antonio,Loudianos Georgios

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference11 articles.

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3. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation and functional analyses;Shah;Am J Hum Genet,1997

4. Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B;Loudianos;Hum Mut,2002

5. RNA analysis of consensus splicing mutations. Implications for the diagnosis of Wilson disease;Lovicu;Genet Test Mol Biomarkers,2009

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1. RNA Splicing: A Versatile Regulatory Mechanism in Pediatric Liver Diseases;Frontiers in Molecular Biosciences;2021-09-28

2. The ATP7B Gene;Clinical and Translational Perspectives on WILSON DISEASE;2019

3. Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease;Liver International;2018-05-02

4. Identification and characterization of a novel splice-site mutation in the Wilson disease gene;Journal of the Neurological Sciences;2014-10

5. Molecular Genetics of Wilson Disease;eLS;2013-04-15