(Q24315607)

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

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congenital disorder

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congenital stationary night blindness

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Calcium voltage-gated channel subunit alpha1 F

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GOA release 2020-03-11

visual perception

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GOA release 2020-03-11

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X-linked congenital stationary night blindness

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inferred from title

object named as

B Koop

5

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author name string

N T Bech-Hansen

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M J Naylor

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T A Maybaum

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W G Pearce

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G A Fishman

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M Mets

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M A Musarella

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K M Boycott

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language of work or name

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publication date

July 1998

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Nature Genetics

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19

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264-7

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3

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Congenital stationary night blindness with negative electroretinogram. A new classification

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255.

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

inferred from DOI database lookup

Construction of a 1.5-Mb bacterial artificial chromosome contig in Xp11.23, a region of high gene content

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Isolation and nucleotide sequence of the gene encoding human rhodopsin

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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The IVS6 segment of the L-type calcium channel is critical for the action of dihydropyridines and phenylalkylamines.

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Ca2+ channels: diversity of form and function

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

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Structure and function of voltage-gated ion channels

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

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Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

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Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Ataxia, arrhythmia and ion-channel gene defects

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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A Drosophila calcium channel alpha1 subunit gene maps to a genetic locus associated with behavioral and visual defects

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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B-wave of the electroretinogram. A reflection of ON bipolar cell activity

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

inferred from DOI database lookup

Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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The dihydropyridine-sensitive calcium channel subtype in cone photoreceptors

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Ionic conductances of monkey solitary cone inner segments

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

inferred from DOI database lookup

A cGMP-gated current can control exocytosis at cone synapses

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

inferred from DOI database lookup

Dihydropyridine-sensitive calcium current mediates neurotransmitter release from bipolar cells of the goldfish retina

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids

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https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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Confidence Limits on Phylogenies: an Approach using the Bootstrap

1 reference

https://api.crossref.org/works/10.1038%2F947

7 January 2021

based on heuristic

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