(Q74617751)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

rhizomelic chondrodysplasia punctata

12 November 2019

main subject

1 reference

Shimozawa N

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Suzuki Y

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Zhang Z

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Miura K

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Matsumoto A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Nagaya M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Castillo-Taucher S

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Kondo N

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

123-125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s100380050123

12 November 2019

exact match

0 references

Identifiers

DOI

10.1007/S100380050123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10083738%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference