(Q38335328)

2 September 2017

title

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

1 reference

2 September 2017

author

Veronica van Heyningen

4

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2 September 2017

J Love

1

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2 September 2017

R Axton

2

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2 September 2017

A Churchill

3

1 reference

2 September 2017

I Hanson

5

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2 September 2017

publication date

1 January 1998

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2 September 2017

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2 September 2017

volume

12

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2 September 2017

issue

2

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2 September 2017

page(s)

128-134

1 reference

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

2 September 2017

cites work

1 reference

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PAX6 missense mutation in isolated foveal hypoplasia

21 January 2018

1 reference

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Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

21 January 2018

1 reference

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Mutations in the PAX6 gene in patients with hereditary aniridia

21 January 2018

1 reference

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

21 January 2018

1 reference

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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A2%3C128%3A%3AAID-HUMU8%3E3.0.CO%3B2-N

Pax6: more than meets the eye.

21 January 2018

1 reference

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PAX6 mutations in aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A2%3C128%3A%3AAID-HUMU8%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

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A new PAX6 mutation in familial aniridia

21 January 2018

1 reference

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Three novel aniridia mutations in the human PAX6 gene

21 January 2018

1 reference

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21 January 2018

1 reference

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21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A2%3C128%3A%3AAID-HUMU8%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

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The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

21 January 2018

1 reference

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Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A2%3C128%3A%3AAID-HUMU8%3E3.0.CO%3B2-N

10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N

21 January 2018

Identifiers

DOI

1 reference

2 September 2017

1 reference