(Q34416995)

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Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15880407%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15880407%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

mitochondrial DNA

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1 reference

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Vincent Procaccio

2

1 reference

Europe PubMed Central

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11 January 2020

author name string

Sylvie Bannwarth

1

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Europe PubMed Central

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11 January 2020

Veronique Paquis-Flucklinger

3

1 reference

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11 January 2020

publication date

1 June 2005

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11 January 2020

1 reference

Europe PubMed Central

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11 January 2020

25

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11 January 2020

575-582

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11 January 2020

6

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Europe PubMed Central

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11 January 2020

Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

21 January 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

MITOMAP: a human mitochondrial genome database--2004 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA mutations in human disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional and structural features of a tandem duplication of the human mtDNA promoter region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

CEL I enzymatic mutation detection assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Nucleotide sequence identity of mitochondrial DNA from different human tissues.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical spectrum and diagnosis of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Searching for A3243G mitochondrial DNA mutation in buccal mucosa in order to improve the screening of patients with mitochondrial diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation detection using a novel plant endonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation detection using Surveyor nuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial diseases in man and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20177

7 January 2021

based on heuristic

inferred from DOI database lookup

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