PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation (Q43734716)

26 November 2017

title

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation (English)

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26 November 2017

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Veronica van Heyningen

9

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26 November 2017

A Renieri

10

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Francesca Mari

object named as

F Mari

2

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author name string

A Malandrini

1

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26 November 2017

S Palmeri

3

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26 November 2017

S Gambelli

4

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26 November 2017

G Berti

5

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26 November 2017

M Bruttini

6

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26 November 2017

A M Bardelli

7

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26 November 2017

K Williamson

8

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26 November 2017

publication date

1 August 2001

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26 November 2017

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26 November 2017

volume

60

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26 November 2017

issue

2

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26 November 2017

page(s)

151-154

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

26 November 2017

cites work

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

A new set of primers for mutation analysis of the human PAX6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

PAX6 mutations in aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

Genetic forms of myasthenia gravis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

The distal region of 11p13 and associated genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

7 January 2021

Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

7 January 2021

Congenital fibrosis of the extraocular muscles; a report of six cases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

7 January 2021

DNA diagnosis in a family with autosomal dominant aniridia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

7 January 2021

Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600210.X

7 January 2021

10.1034/J.1399-0004.2001.600210.X

Identifiers

DOI

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release_66byppwhmzaqfkqfsni6ibnfsm

26 November 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/66byppwhmzaqfkqfsni6ibnfsm

24 November 2022

mapped directly with Wikidata item

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