(Q38290936)

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Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).

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Europe PubMed Central

PubMed publication ID

1 September 2017

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). (English)

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Europe PubMed Central

PubMed publication ID

1 September 2017

retinitis pigmentosa

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based on heuristic

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van Lith-Verhoeven JJ

1

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Europe PubMed Central

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1 September 2017

van der Velde-Visser SD

2

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Europe PubMed Central

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1 September 2017

Sohocki MM

3

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Europe PubMed Central

PubMed publication ID

1 September 2017

Deutman AF

4

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Europe PubMed Central

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1 September 2017

Brink HM

5

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Europe PubMed Central

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1 September 2017

Cremers FP

6

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Europe PubMed Central

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1 September 2017

Hoyng CB

7

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Europe PubMed Central

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1 September 2017

publication date

1 March 2002

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Europe PubMed Central

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1 September 2017

Ophthalmic Genetics

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Europe PubMed Central

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1 September 2017

23

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1 September 2017

1

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Europe PubMed Central

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1 September 2017

1-12

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Europe PubMed Central

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1 September 2017

A genetic analysis of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Mechanisms of Cell Death in the Inherited Retinal Degenerations

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.23.1.1.2206

21 January 2018

Identifiers

10.1076/OPGE.23.1.1.2206

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

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