Retinal structure and function in achromatopsia: implications for gene therapy. (Q37492242)

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28 February 2020

title

Retinal structure and function in achromatopsia: implications for gene therapy (English)

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Jonathan Aboshiha

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Michel Michaelides

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Jill Cowing

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Venki Sundaram

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Christopher S Langlo

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Caroline Wilde

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Colin Han

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Ravinder Chana

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Alice E Davidson

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28 February 2020

Panagiotis I Sergouniotis

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Robin R Ali

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Gary Rubin

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Andrew R Webster

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Anthony T Moore

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Joseph Carroll

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publication date

20 October 2013

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volume

121

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issue

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page(s)

234-245

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describes a project that uses

28 February 2020

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3895408/fullTextXML

inferred from PubMed Central ID database lookup

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Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

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Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24148654

12 December 2020

inferred from PubMed ID database lookup

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24148654

12 December 2020

inferred from PubMed ID database lookup

Fixation stability measurement using the MP1 microperimeter

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24148654

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.OPHTHA.2013.08.017

1 reference

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28 February 2020

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28 February 2020

PubMed publication ID

24148654

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24148654%20AND%20SRC:MED&resulttype=core&format=json