Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Mitochondrial ND4L gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?

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2.

Brown MD et al. (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

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3.

Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.

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4.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

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5.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

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6.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

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7.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

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8.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

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9.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

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10.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

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11.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

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12.

Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

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13.

Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.

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14.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

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15.

Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.

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16.

None (1956) On the origin of cancer cells.

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17.

NCBI article

NCBI 4539 external link
18.

OMIM.ORG article

Omim 516004 external link
19.

Orphanet article

Orphanet ID 123557 external link
20.

Wikipedia article

Wikipedia EN (MT-ND4L) external link
Update: Aug. 14, 2020
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