Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Open Access

Peer-reviewed

Research Article

Theodor Todorov ,

Contributed equally to this work with: Theodor Todorov, Prahlad Balakrishnan

Affiliation Department of Transplantation Medicine, University of Muenster, Germany
⨯
Prahlad Balakrishnan ,

Contributed equally to this work with: Theodor Todorov, Prahlad Balakrishnan

* E-mail: bprahlad@gmail.com

Current address: Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Ponekkara P.O., Kochi, Kerala, India

Affiliation Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
⨯
Alexey Savov,

Affiliation National Genetic Laboratory (NGL), Sofia, Bulgaria
⨯
Piotr Socha,

Affiliation Department of Gastroenterology, Hepatology and Immunology, Children’s Memorial Health Institute, Warsaw, Poland
⨯
Hartmut H. J. Schmidt

Affiliation Department of Transplantation Medicine, University of Muenster, Germany
⨯

Reader Comments (0)

Deletion mutation
Is the Subject Area "Deletion mutation" applicable to this article?

Thanks for your feedback.
Mutation detection
Is the Subject Area "Mutation detection" applicable to this article?

Thanks for your feedback.
Single nucleotide polymorphisms
Is the Subject Area "Single nucleotide polymorphisms" applicable to this article?

Thanks for your feedback.
Point mutation
Is the Subject Area "Point mutation" applicable to this article?

Thanks for your feedback.
Homozygosity
Is the Subject Area "Homozygosity" applicable to this article?

Thanks for your feedback.
Wilson's disease
Is the Subject Area "Wilson's disease" applicable to this article?

Thanks for your feedback.
Haplotypes
Is the Subject Area "Haplotypes" applicable to this article?

Thanks for your feedback.
Mutation
Is the Subject Area "Mutation" applicable to this article?

Thanks for your feedback.