(Q70708772)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

Waardenburg syndrome type 1

13 October 2019

main subject

1 reference

M Tassabehji

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

A P Read

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

V E Newton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

M Patton

4

1 reference

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13 October 2019

P Gruss

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

R Harris

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

T Strachan

7

1 reference

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13 October 2019

publication date

1 January 1993

1 reference

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13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

3

1 reference

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13 October 2019

issue

1

1 reference

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13 October 2019

page(s)

26-30

1 reference

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13 October 2019

1 reference

7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

1 reference

7 January 2021

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

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

7 January 2021

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

7 January 2021

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

7 January 2021

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

7 January 2021

Waardenburg's Syndrome: A Comparison of Biometric Indices used to Diagnose Lateral Displacement of the Inner Canthi

1 reference

7 January 2021

The molecular basis of the undulated/Pax-1 mutation

1 reference

7 January 2021

Pax: a murine multigene family of paired box-containing genes

1 reference

7 January 2021

The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat

1 reference

7 January 2021

Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans

1 reference

7 January 2021

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

7 January 2021

Mouse small eye results from mutations in a paired-like homeobox-containing gene

1 reference

7 January 2021

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0193-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8490648%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference