Novel non-contiguous exon duplication in choroideremia. (Q45866412)

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15 March 2020

title

Novel non-contiguous exon duplication in choroideremia (English)

1 reference

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15 March 2020

1

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Jonathan Williams

2

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15 March 2020

Maria I Patrício

3

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15 March 2020

Matthew P Simunovic

4

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15 March 2020

Robert MacLaren

7

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15 March 2020

author name string

M Shanks

5

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P Clouston

6

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publication date

19 April 2017

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15 March 2020

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15 March 2020

volume

93

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issue

1

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page(s)

144-148

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Visual Function and Central Retinal Structure in Choroideremia.

15 March 2020

cites work

1 reference

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

21 January 2018

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Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

21 January 2018

1 reference

New type of mutations in three spanish families with choroideremia.

21 January 2018

1 reference

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.

21 January 2018

1 reference

Mutational analysis of patients with the diagnosis of choroideremia

21 January 2018

1 reference

Visual Acuity after Retinal Gene Therapy for Choroideremia.

21 January 2018

1 reference

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

21 January 2018

1 reference

Long-term effect of gene therapy on Leber's congenital amaurosis

21 January 2018

1 reference

Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.13021

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15 March 2020

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