(Q46419617)

English

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.

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Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

0 references

author name string

Carolyn I Hope

1

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Dianne M Sharp

2

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Ariana Hemara-Wahanui

3

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Jennifer I Sissingh

4

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Patricia Lundon

5

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Ed A Mitchell

6

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Marion A Maw

7

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Gillian M Clover

8

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

publication date

1 April 2005

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Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Clinical and Experimental Ophthalmology

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Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

33

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

2

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

129-136

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Congenital stationary night blindness with negative electroretinogram. A new classification

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.00987.X

21 January 2018

Identifiers

10.1111/J.1442-9071.2005.00987.X

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15807819

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