(Q36796259)

16 August 2017

1 reference

title

Detection of mutations in mtDNA. (English)

1 reference

16 August 2017

Ali Naini

1

1 reference

PubMed ID

17445708

16 August 2017

Sara Shanske

series ordinal

2

1 reference

16 August 2017

1 January 2007

1 reference

16 August 2017

Methods in Cell Biology

1 reference

16 August 2017

80

1 reference

16 August 2017

437-463

1 reference

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

16 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Cyclic vomiting syndrome and mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial DNA mutations in human disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

A subtype of diabetes mellitus associated with a mutation in the mitochondrial gene

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial genetics and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Molecular analysis for mitochondrial DNA disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

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/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Infantile encephalopathy associated with the MELAS A3243G mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial DNA variation in human evolution and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Molecular analysis of cloned human 18S ribosomal DNA segments

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2806%2980022-1

7 January 2021

10.1016/S0091-679X(06)80022-1

Identifiers

DOI

1 reference

16 August 2017

1 reference

PubMed ID

17445708