(Q28214255)

object named as

Albert de la Chapelle

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Alfons Meindl

object named as

Alfons Meindl

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Bernd Wissinger

object named as

Bernd Wissinger

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author name string

Krisztina Wutz

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Christian Sauer

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Eberhart Zrenner

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Birgit Lorenz

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Tiina Alitalo

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Martina Broghammer

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Martin Hergersberg

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Bernhard H F Weber

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Carsten M Pusch

European Journal of Human Genetics

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language of work or name

English

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publication date

August 2002

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published in

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volume

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issue

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page(s)

449-56

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cites work

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

1 reference

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Congenital stationary night blindness with negative electroretinogram. A new classification

21 January 2018

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Incomplete congenital stationary night blindness (CSNB). An important differential diagnosis of congenital nystagmus

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

21 January 2018

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

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Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

21 January 2018

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Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

21 January 2018

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Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit

21 January 2018

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PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect

21 January 2018

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

21 January 2018

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Instability and decay of the primary structure of DNA

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

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Submillisecond kinetics of glutamate release from a sensory synapse.

21 January 2018

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Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness

21 January 2018

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Clinical and electroretinographic comparison between Åland Island eye disease and a newly found related disease with X-chromosomal inheritance

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7 January 2021

A New Congenital Cataract in the Mouse

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7 January 2021

Localization and quantitation of opsin and transducin mRNAs in bovine retina by in situ hybridization histochemistry

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7 January 2021

Molecular cloning of the murine JAK1 protein tyrosine kinase and its expression in the mouse central nervous system.

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Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss.

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7 January 2021

Dependence of photoreceptor glutamate release on a dihydropyridine-sensitive calcium channel

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7 January 2021