PAX6 missense mutation in isolated foveal hypoplasia (Q28279858)

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Language	Label	Description	Also known as
English	PAX6 missense mutation in isolated foveal hypoplasia	scientific article

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instance of

scholarly article

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title

PAX6 missense mutation in isolated foveal hypoplasia (English)

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author name string

N Azuma

series ordinal

1

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S Nishina

series ordinal

2

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H Yanagisawa

series ordinal

3

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T Okuyama

series ordinal

4

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M Yamada

series ordinal

5

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language of work or name

English

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publication date

June 1996

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published in

Nature Genetics

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volume

13

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issue

2

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page(s)

141-2

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cites work

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

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038/NG0696-141

retrieved

21 April 2017

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

21 January 2018

Autosomal Dominant Foveal Hypoplasia and Presenile Cataracts

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

21 January 2018

Isolated Foveal Hypoplasia

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolated foveal hypoplasia

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0696-141

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG0696-141

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PubMed publication ID

8640214

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