(Q28207498)

English

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

scientific article (publication date: December 2002)

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scholarly article

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A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis (English)

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congenital disorder

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Leber congenital amaurosis

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based on heuristic

inferred from title

1

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Isabelle Perrault

2

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9

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Josseline Kaplan

11

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3

object named as

Sylvain Hanein

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Dominique Ducroq

7

object named as

Dominique Ducroq

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Fabienne Barbet

6

object named as

Fabienne Barbet

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author name string

Stavit Shalev

4

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Joel Zlotogora

5

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Jean Dufier

8

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Jean Rozet

10

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language of work or name

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publication date

December 2002

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Ophthalmic Genetics

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23

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4

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225-35

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076/OPGE.23.4.225.13879

21 April 2017

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Mutations in the CRB1 gene cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

A novel locus for Leber congenital amaurosis on chromosome 14q24.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

A novel locus for Leber congenital amaurosis maps to chromosome 6q

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Ueber Retinitis pigmentosa und angeborene Amaurose

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.4.225.13879

21 January 2018

Identifiers

10.1076/OPGE.23.4.225.13879

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