ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis. - Wikidata - wikimedia - TriplyDB

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

http://www.wikidata.org/entity/Q37139294

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Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis Retinitis pigmentosa and allied conditions today: a paradigm of translational research Molecular diagnosis of putative Stargardt Disease probands by exome sequencing Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.Outcome of ABCA4 microarray screening in routine clinical practice.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

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ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

http://www.wikidata.org/entity/Q37139294

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 25 March 2009

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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

ABCA4 mutations in Portuguese ...... and their phenotypic analysis.

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ABCA4 mutations in Portuguese ...... and their phenotypic analysis.

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type

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ABCA4 mutations in Portuguese ...... and their phenotypic analysis.

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ABCA4 mutations in Portuguese ...... and their phenotypic analysis.

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ABCA4 mutations in Portuguese ...... and their phenotypic analysis.

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ABCA4 mutations in Portuguese ...... and their phenotypic analysis.

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Molecular Vision

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ABCA4 mutations in Portuguese ...... and their phenotypic analysis

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Carmen Ayuso

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Eduardo Duarte Silva

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Jana Aguirre-Lamban

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Miguel Castelo-Branco

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Rosa Riveiro-Alvarez

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Susana Maia-Lopes

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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

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

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation.

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584-591

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scholarly article

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15

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2009-03-25T00:00:00Z

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19365591

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2660377

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