(Q77514150)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11799391%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation (English)

1 reference

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6 December 2019

1

1 reference

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6 December 2019

Robert William Taylor

4

object named as

Robert W Taylor

1 reference

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Douglass Matthew Turnbull

6 December 2019

7

object named as

Douglass M Turnbull

1 reference

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6 December 2019

3

Andrew A M Morris

1 reference

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6 December 2019

6

Robert N Lightowlers

1 reference

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6 December 2019

author name string

Kim M Clark

2

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6 December 2019

Sheila Macphail

5

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6 December 2019

publication date

22 January 2002

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6 December 2019

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6 December 2019

volume

30

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6 December 2019

page(s)

145-146

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6 December 2019

issue

2

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng819

6 December 2019

exact match

0 references

cites work

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

7 January 2021

Cytochromec oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

1 reference

7 January 2021

Reversal of a mitochondrial DNA defect in human skeletal muscle.

1 reference

7 January 2021

Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

1 reference

7 January 2021

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

1 reference

7 January 2021

Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing

1 reference

7 January 2021

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

1 reference

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

7 January 2021

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

1 reference

7 January 2021

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

7 January 2021

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

1 reference

7 January 2021

Mitochondria and germ-cell death

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG819

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11799391%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference