(Q56241305)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694179%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR (English)

1 reference

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8 January 2020

0 references

1 reference

2

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8 January 2020

Jean-Paul Bonnefont

7

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8 January 2020

Julie Steffann

10

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8 January 2020

4

Nelly Frydman

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8 January 2020

1

Nadine Gigarel

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8 January 2020

9

Arnold Munnich

1 reference

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8 January 2020

6

Sophie Lebon

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8 January 2020

author name string

Philippe Burlet

3

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8 January 2020

Ghislaine Royer

5

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8 January 2020

René Frydman

8

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8 January 2020

publication date

9 December 2004

1 reference

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Molecular Genetics and Metabolism

8 January 2020

published in

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8 January 2020

volume

84

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8 January 2020

issue

3

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8 January 2020

page(s)

289-292

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Sequence and organization of the human mitochondrial genome

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Maternal inheritance of human mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.008

10.1016/J.YMGME.2004.10.008

7 January 2021

Identifiers

DOI

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8 January 2020

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