Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. - Wikidata - wikimedia - TriplyDB

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

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Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.

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Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

http://www.wikidata.org/entity/Q37560461

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on December 2016

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Clinical Characteristics, Muta ...... ry Night Blindness in Denmark.

@en

Clinical Characteristics, Muta ...... ry Night Blindness in Denmark.

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type

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Clinical Characteristics, Muta ...... ry Night Blindness in Denmark.

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Clinical Characteristics, Muta ...... ry Night Blindness in Denmark.

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Clinical Characteristics, Muta ...... ry Night Blindness in Denmark.

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Clinical Characteristics, Muta ...... ry Night Blindness in Denmark.

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Investigative Ophthalmology & Visual Science

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Clinical Characteristics, Muta ...... ary Night Blindness in Denmark

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Alana Trotter

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Birgit Sander

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Joseph Carroll

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Kevser Z Kilic-Biyik

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Marianne N Hove

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Michael Larsen

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Thomas Rosenberg

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Torben Bech-Hansen

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P2860

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

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

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

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

The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteins

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

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

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

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6861-6869

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scholarly article

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10.1167/IOVS.16-19445

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15

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2016-12-01T00:00:00Z

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28002560

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congenital stationary night blindness

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5215230

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