(Q52531748)

2 May 2018

title

Genotype/phenotype correlations in aniridia. (English)

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2 May 2018

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3

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2 May 2018

author name string

S K Gupta

1

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2 May 2018

I De Becker

2

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2 May 2018

D L Guernsey

4

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2 May 2018

P E Neumann

5

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2 May 2018

language of work or name

English

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publication date

1 August 1998

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2 May 2018

American Journal of Ophthalmology

published in

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2 May 2018

volume

126

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2 May 2018

issue

2

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2 May 2018

page(s)

203-210

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2 May 2018

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

The human PAX6 gene is mutated in two patients with aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Mutations in the PAX6 gene in patients with hereditary aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Transcription factor genes and the developing eye: a genetic perspective

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Genetics of aniridia and anterior segment dysgenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Criteria to detect minimal expressivity within families with autosomal dominant aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Effects of PAX6 mutations on retinal function: an electroretinographic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

A simple salting out procedure for extracting DNA from human nucleated cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

DNA sequencing with chain-terminating inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Ocular surface abnormalities in aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

PAX6 missense mutation in isolated foveal hypoplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

A new PAX6 mutation in familial aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Three novel aniridia mutations in the human PAX6 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Functional analysis of paired box missense mutations in the PAX6 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

PAX6 mutations in aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Sequence, initial functional analysis and protein-DNA binding sites of the mouse beta B2-crystallin-encoding gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

Standard for clinical electroretinography. International Standardization Committee

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2898%2900191-3

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0002-9394(98)00191-3

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2 May 2018

PubMed ID

9727514

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2 May 2018