(Q44128836)

30 November 2017

title

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness (English)

1 reference

congenital stationary night blindness

30 November 2017

main subject

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author name string

al-Jandal N

1

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30 November 2017

Farrar GJ

2

1 reference

30 November 2017

Kiang AS

3

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30 November 2017

Humphries MM

4

1 reference

30 November 2017

Bannon N

5

1 reference

30 November 2017

Findlay JB

6

1 reference

30 November 2017

Humphries P

7

1 reference

30 November 2017

Kenna PF

8

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30 November 2017

publication date

1 January 1999

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30 November 2017

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30 November 2017

volume

13

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30 November 2017

issue

1

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30 November 2017

page(s)

75-81

1 reference

Constitutive activation of opsin: influence of charge at position 134 and size at position 296.

30 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

21 January 2018

1 reference

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Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Congenital stationary night blindness with negative electroretinogram. A new classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Constitutively active mutants of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Dark adaptation testing in heterozygotes of Usher's syndrome

21 January 2018

1 reference

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Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

21 January 2018

1 reference

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Electroretinography in cases of night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

Autosomal dominant stationary night-blindness A large family rediscovered

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

[Analysis of the human electroretinogram]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C75%3A%3AAID-HUMU9%3E3.0.CO%3B2-4

10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4

21 January 2018

Identifiers

DOI

1 reference

30 November 2017

1 reference