(Q28141165)

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

scientific article (publication date: June 2000)

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title

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

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main subject

congenital disorder

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congenital stationary night blindness

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X-linked congenital stationary night blindness

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K M Boycott

1

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W G Pearce

series ordinal

2

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N T Bech-Hansen

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3

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language of work or name

English

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publication date

June 2000

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published in

Canadian Journal of Ophthalmology

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volume

35

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issue

4

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page(s)

204-13

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cites work

Congenital stationary night blindness with negative electroretinogram. A new classification

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https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

retrieved

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

retrieved

7 January 2021

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

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https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

retrieved

7 January 2021

Positional cloning: let's not call it reverse anymore

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https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

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7 January 2021

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23

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reference URL

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980031-9

retrieved

7 January 2021

Identifiers

DOI

10.1016/S0008-4182(00)80031-9

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release_mujfohby7ncsrc3kd5pk4qomje

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https://api.fatcat.wiki/v0/release/mujfohby7ncsrc3kd5pk4qomje

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24 November 2022

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PubMed ID

10900517

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(Q28141165)

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

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