(Q72449502)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

Waardenburg syndrome type 1

26 October 2019

main subject

1 reference

Pierpont JW

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Doolan LD

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Amann K

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Snead GR

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Erickson RP

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

publication date

1 January 1994

1 reference

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26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

227-228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

26 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040310

7 January 2021

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040310

7 January 2021

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040310

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040310

7 January 2021

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040310

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833953%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference