(Q46592497)

23 December 2017

title

Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis (English)

1 reference

23 December 2017

author name string

Gandra Mamatha

1

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23 December 2017

Sundaramurthy Srilekha

2

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23 December 2017

Swaminathan Meenakshi

3

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23 December 2017

Govindasamy Kumaramanickavel

4

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23 December 2017

publication date

1 June 2008

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23 December 2017

published in

Ophthalmic Genetics

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23 December 2017

volume

29

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23 December 2017

issue

2

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23 December 2017

page(s)

73-78

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23 December 2017

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Consanguinity and ocular genetic diseases in South India: analysis of a five-year study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Analysis of three genes in Leber congenital amaurosis in Indonesian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802008259

10.1080/13816810802008259

21 January 2018

Identifiers

DOI

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23 December 2017

PubMed ID

18484312

1 reference

23 December 2017