(Q78427430)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

Lee-Jun C Wong

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Min-Hui Liang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Haeyoung Kwon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Ren-Kui Bai

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Ozgül Alper

5

1 reference

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14 December 2019

Andrea Gropman

6

1 reference

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14 December 2019

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

14 December 2019

published in

1 reference

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14 December 2019

volume

113

1 reference

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14 December 2019

issue

1

1 reference

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14 December 2019

page(s)

59-64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

Cystic fibrosis and the sinonasal tract

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

The epidemiology of pathogenic mitochondrial DNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

Efficiency of oxidative work performance of skeletal muscle in patients with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

Yield of mtDNA mutation analysis in 2,000 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

Evidence for a mitochondrial lesion in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

Improved detection of CFTR mutations in Southern California Hispanic CF patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10767

21 January 2018

Identifiers

DOI

10.1002/AJMG.10767

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400067%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference