(Q34465512)

2 August 2017

title

Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene (English)

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2 August 2017

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Patrik Schatz

1

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author name string

Vesna Ponjavic

2

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2 August 2017

Sten Andréasson

3

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2 August 2017

Terri L McGee

4

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2 August 2017

Thaddeus P Dryja

5

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2 August 2017

Magnus Abrahamson

6

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2 August 2017

language of work or name

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1 September 2005

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2 August 2017

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2 August 2017

volume

26

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2 August 2017

issue

3

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2 August 2017

page(s)

119-124

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

2 August 2017

cites work

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https://api.crossref.org/works/10.1080%2F13816810500229090

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

21 January 2018

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Guidelines for basic multifocal electroretinography (mfERG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

Optical coherence tomography 3: Automatic delineation of the outer neural retinal boundary and its influence on retinal thickness measurements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810500229090

10.1080/13816810500229090

21 January 2018

Identifiers

DOI

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2 August 2017

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