Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. (Q55278675)

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scientific article published on 12 April 2018

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English	Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.	scientific article published on 12 April 2018

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23 March 2020

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Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report (English)

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23 March 2020

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23 March 2020

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Gang Liu

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23 March 2020

Dingyuan Ma

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23 March 2020

Jian Cheng

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23 March 2020

Jingjing Zhang

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23 March 2020

Chunyu Luo

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23 March 2020

Yun Sun

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23 March 2020

Ping Hu

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23 March 2020

Yuguo Wang

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23 March 2020

Tao Jiang

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12 April 2018

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23 March 2020

BMC Medical Genetics

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23 March 2020

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23 March 2020

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Creative Commons Attribution 4.0 International

12 April 2018

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

1 reference

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30 June 2018

DNA Polymerase θ: A Unique Multifunctional End-Joining Machine

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30 June 2018

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

1 reference

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30 June 2018

Finding FMR1 mosaicism in Fragile X syndrome.

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30 June 2018

Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?

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30 June 2018

Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene.

1 reference

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30 June 2018

Wilson's disease: a comprehensive review of the molecular mechanisms

1 reference

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30 June 2018

Mechanism of suppression of chromosomal instability by DNA polymerase POLQ

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30 June 2018

Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease

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30 June 2018

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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30 June 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

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30 June 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

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30 June 2018

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

1 reference

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30 June 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

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30 June 2018

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

1 reference

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30 June 2018

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5898064

30 June 2018

Modulation of DNA end joining by nuclear proteins

1 reference

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30 June 2018

Diagnosis and phenotypic classification of Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5898064

30 June 2018

Ku-dependent and Ku-independent end-joining pathways lead to chromosomal rearrangements during double-strand break repair in Saccharomyces cerevisiae.

1 reference

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30 June 2018

An epidemiological study of Wilson's disease in the Republic of Ireland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5898064

30 June 2018

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5898064

30 June 2018

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5898064

30 June 2018

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

1 reference

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30 June 2018

A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites

1 reference

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12 August 2018

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease

1 reference

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12 August 2018

DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.

1 reference

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12 August 2018

Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene

1 reference

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12 August 2018

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.

1 reference

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12 August 2018

Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach

1 reference

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12 August 2018

Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

1 reference

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12 August 2018

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