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 is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1009938043
P356DOI10.1038/947
P3181OpenCitations bibliographic resource ID948727
P698PubMed publication ID9662400

P50authorBen F KoopQ30506187
P2093author name stringN T Bech-Hansen
M A Musarella
W G Pearce
G A Fishman
M J Naylor
K M Boycott
T A Maybaum
M Mets
P2860cites workAn L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindnessQ24315182
Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtypeQ24324250
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.Q24538863
Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal XpQ28252488
Isolation and nucleotide sequence of the gene encoding human rhodopsinQ28609991
Structure and function of voltage-gated ion channelsQ34296742
Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.Q34560693
Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channelQ34661325
Ca2+ channels: diversity of form and functionQ35231036
B-wave of the electroretinogram. A reflection of ON bipolar cell activityQ36410131
The dihydropyridine-sensitive calcium channel subtype in cone photoreceptorsQ36411781
Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybridsQ36865863
A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255.Q40941690
The IVS6 segment of the L-type calcium channel is critical for the action of dihydropyridines and phenylalkylamines.Q41064996
Ataxia, arrhythmia and ion-channel gene defectsQ41737714
A Drosophila calcium channel alpha1 subunit gene maps to a genetic locus associated with behavioral and visual defectsQ42647731
Congenital stationary night blindness with negative electroretinogram. A new classificationQ44444809
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 intervalQ48058297
Ionic conductances of monkey solitary cone inner segmentsQ71622403
Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-waveQ72076802
Dihydropyridine-sensitive calcium current mediates neurotransmitter release from bipolar cells of the goldfish retinaQ72087486
A cGMP-gated current can control exocytosis at cone synapsesQ72769738
Construction of a 1.5-Mb bacterial artificial chromosome contig in Xp11.23, a region of high gene contentQ74451032
Confidence Limits on Phylogenies: an Approach using the BootstrapQ104205453
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectcalciumQ706
visual perceptionQ162668
X-linked congenital stationary night blindnessQ8041552
congenital disorderQ727096
congenital stationary night blindnessQ18553290
Calcium voltage-gated channel subunit alpha1 FQ21102124
P304page(s)264-7
P577publication date1998-07-01
P1433published inNature GeneticsQ976454
P1476titleLoss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
P478volume19

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