(Q46813175)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

adenine phosphoribosyltransferase deficiency

7 February 2020

main subject

0 references

author

Vincent Morinière

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Valérie Malan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Corinne Antignac

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Laurence Heidet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

I Ceballos-Picot

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

G Guest

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

L Mockel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

M Daudon

5

1 reference

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7 February 2020

publication date

1 August 2011

1 reference

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7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749366%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

80

1 reference

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7 February 2020

issue

2

1 reference

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7 February 2020

page(s)

199-201

1 reference

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Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01626.X

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01626.X

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01626.X

Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01626.X