Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

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Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-my

2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Mutation Spectrum of the ABCA4 ...... ree Prevalent Mutated Alleles.

@en

Mutation Spectrum of the ABCA4 ...... ree Prevalent Mutated Alleles.

@nl

type

Item

label

Mutation Spectrum of the ABCA4 ...... ree Prevalent Mutated Alleles.

@en

Mutation Spectrum of the ABCA4 ...... ree Prevalent Mutated Alleles.

@nl

prefLabel

Mutation Spectrum of the ABCA4 ...... ree Prevalent Mutated Alleles.

@en

Mutation Spectrum of the ABCA4 ...... ree Prevalent Mutated Alleles.

@nl

P1476

Mutation Spectrum of the ABCA4 ...... hree Prevalent Mutated Alleles

@en

P2093

Aslanides Ioannis Minas

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Datseris Ioannis

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Giatzakis Christoforos

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Kokkinou Vassiliki

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Koukoula Stavrenia

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Koutsodontis George

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Stamatiou Polixeni

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P2860

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.

P304

5706142

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P31

scholarly article

P356

10.1155/2018/5706142

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P478

2018

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P50

Miltiadis K. Tsilimbaris

Theonitsa Panagiotoglou

Anastasios Anastasakis

Kamakari Smaragda

P577

2018-04-30T00:00:00Z

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29854428

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P932

5952432

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