RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases (Q28204766)

2

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Nagasamy Soumittra

3

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Authiappan Vidhya

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Nitin Sridhara Shetty

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Satagopan Uthra

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Govindasamy Kumaramanickavel

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies

7

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language of work or name

English

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publication date

April 2002

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published in

Journal of Genetics

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volume

81

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page(s)

19-23

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issue

1

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cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02715866

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

21 January 2018

1 reference

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Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro

1 reference

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Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis*

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Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

1 reference

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Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

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Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

1 reference

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Multiplex PCR for screening of microdeletions on the Y chromosome

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

1 reference

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Gene therapy restores vision in a canine model of childhood blindness

1 reference

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Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

1 reference

12 December 2020

Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium

1 reference

12 December 2020

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

1 reference

12 December 2020