Gene conversion in human genetic disease (Q37664073)

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scientific article published on 22 December 2010

Language	Label	Description	Also known as
English	Gene conversion in human genetic disease	scientific article published on 22 December 2010

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Gene conversion in human genetic disease (English)

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

David N. Cooper

3

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

author name string

Jian-Min Chen

1

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Claude Férec

2

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

publication date

22 December 2010

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

550-563

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

copyright license

Creative Commons Attribution 4.0 International

22 December 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Diversity of human copy number variation and multicopy genes

1 reference

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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X-linked cone dystrophy caused by mutation of the red and green cone opsins

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Genomic rearrangements in inherited disease and cancer

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Homing endonucleases: from basics to therapeutic applications.

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Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

1 reference

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Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants

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6 September 2017

Gene conversion: mechanisms, evolution and human disease

1 reference

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Too many mutants with multiple mutations

1 reference

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Non-B DNA conformations, mutagenesis and disease

1 reference

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Evidence for mutation showers

1 reference

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A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

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Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome

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Clusters of mutations from transient hypermutability

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1 reference

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

1 reference

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Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency

1 reference

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Gene conversion between red and defective green opsin gene in blue cone monochromacy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966225

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Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966225

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Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966225

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Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966225

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Evidence that proximal multiple mutations in Big Blue transgenic mice are dependent events

1 reference

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Emergence of genetic instability in children treated for leukemia.

1 reference

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Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

1 reference

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A novel germline mutation in Big Blue mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966225

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A gene conversion hotspot in the human growth hormone (GH1) gene promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966225

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Role of non-B DNA conformations in initiating the nonallelic homologous recombination-derived Se allele and the interlocus gene conversion-derived Sec1-FUT2-Sec1 hybrid allele

1 reference

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Sec1-FUT2-Sec1 hybrid allele generated by interlocus gene conversion.

1 reference

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Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency

1 reference

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Transmission of mutations in the lacI transgene to the offspring of ENU-treated Big Blue male mice

1 reference

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Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

1 reference

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Gene conversion events contribute to the polymorphic variation of the surrogate light chain gene lambda 5/14.1.

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinal Muscular Atrophy Due to Double Gene Conversion Event

1 reference

https://pubmed.ncbi.nlm.nih.gov/24710102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events

1 reference

https://pubmed.ncbi.nlm.nih.gov/24710102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3390/GENES1030550

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

ResearchGate publication ID

0 references

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