Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function (Q24558776)

1

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James S Friedman

2

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Michael A Sandberg

3

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Eliot L Berson

5

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Thaddeus P Dryja

Proceedings of the National Academy of Sciences of the United States of America

6

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language of work or name

English

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publication date

21 December 2004

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published in

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volume

101

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issue

51

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page(s)

17819-24

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cites work

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Crossref

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Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

21 January 2018

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21 January 2018

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A conserved region adjacent to the basic domain is required for recognition of an extended DNA binding site by Maf/Nrl family proteins

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12 December 2020

Clinical and histopathologic findings in clumped pigmentary retinal degeneration

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12 December 2020

Rod Responses in Retinitis Pigmentosa, Dominantly Inherited

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12 December 2020

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

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12 December 2020

An electroretinographic and molecular genetic study of X-linked cone degeneration

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12 December 2020

Identifiers

DOI

10.1073/PNAS.0408183101

1 reference

release_l5c6aalefnc4tnsl6zjjoxdglm

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/l5c6aalefnc4tnsl6zjjoxdglm

24 November 2022

mapped directly with Wikidata item

3536623

1 reference

1 reference

3536623

PubMed publication ID

15591106

1 reference