Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants

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Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.

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Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants

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bilimsel makale

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scientific article published on 20 July 2013

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Molecular characteristics of f ...... novel disease-causing variants

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Molecular characteristics of f ...... ovel disease-causing variants.

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Molecular characteristics of f ...... novel disease-causing variants

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Molecular characteristics of f ...... ovel disease-causing variants.

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Molecular characteristics of f ...... novel disease-causing variants

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Molecular characteristics of f ...... ovel disease-causing variants.

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Molecular characteristics of f ...... novel disease-causing variants

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Kaoru Fujinami

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Kaoru Tomita

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Kazuo Tsubota

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Kazushige Tsunoda

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Kei Shinoda

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Masakazu Akahori

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Natsuko Nakamura

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Takeshi Itabashi

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Takeshi Iwata

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Tetsuhisa Hatase

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Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

A method and server for predicting damaging missense mutations

Rod and cone function in patients with KCNV2 retinopathy

SIFT: Predicting amino acid changes that affect protein function

Supernormal scotopic ERG in cone dystrophy.

Fundus autofluorescence in autosomal dominant occult macular dystrophy.

Mutations in the K+ channel signature sequence.

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram"

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

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1580-1590

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scholarly article

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2013-07-20T00:00:00Z

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3718491

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Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants

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Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants

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