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stargardt disease/adenosina
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ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
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OBJECTIVE
To evaluate photoreceptor cell-specific adenosine triphosphate (ATP)-binding cassette transporter (ABCA4) gene mutations in Japanese patients with Stargardt disease (STGD) and the correlation of these mutations to clinical phenotypes.
METHODS
Serum was obtained from 10 unrelated Japanese
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
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OBJECTIVE
To determine the type of ABCR mutations that segregate in a family that manifests both Stargardt disease (STGD) and retinitis pigmentosa (RP), and the functional consequences of the underlying mutations.
METHODS
Direct sequencing of all 50 exons and flanking intronic regions of ABCR was
Transduction of photoreceptors with equine infectious anemia virus lentiviral vectors: safety and biodistribution of StarGen for Stargardt disease.
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OBJECTIVE
StarGen is an equine infectious anemia virus (EIAV)-based lentiviral vector that expresses the photoreceptor-specific adenosine triphosphate (ATP)-binding cassette transporter (ABCA4) protein that is mutated in Stargardt disease (STGD1), a juvenile macular dystrophy. EIAV vectors are able
Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5.
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UNASSIGNED
Outcome measures that are sensitive to disease progression are needed as clinical end points for future treatment trials in Stargardt disease.
UNASSIGNED
To examine the incidence of atrophic lesions of the retinal pigment epithelium in patients with Stargardt disease as determined by
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.
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OBJECTIVE
To investigate genetic mutations in Korean patients with Stargardt disease (STGD) using exome sequencing, and to analyze the correlations between genetic mutations and clinical phenotypes.
METHODS
Peripheral venous blood was obtained from 24 clinically diagnosed Korean STGD patients,
The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.
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The rod outer segment ATP binding cassette (ABC) transporter protein (ABCR) plays an important role in retinal rod cells presumably transporting retinal. Genetic studies in humans have linked mutations in the ABCR gene to a number of inherited retinal diseases particularly Stargardt macular
The external limiting membrane in early-onset Stargardt disease.
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OBJECTIVE
To describe pathologic changes of the external limiting membrane (ELM) in young patients with early-onset Stargardt (STGD1) disease.
METHODS
Twenty-six STGD1 patients aged younger than 20 years with confirmed disease-causing adenosine triphosphate-binding cassette, subfamily A, member 4
Association between genotype and phenotype in families with mutations in the ABCA4 gene.
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OBJECTIVE
To investigate the genotype and phenotype in families with adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4)-associated retinal degeneration.
METHODS
Three families with at least one family member with known homozygous or compound heterozygote mutations in the ABCA4
Nucleotide binding domain 1 of the human retinal ABC transporter functions as a general ribonucleotidase.
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Members of the ATP binding cassette (ABC) superfamily are transmembrane proteins that are found in a variety of tissues which transport substances across cell membranes in an energy-dependent manner. The retina-specific ABC protein (ABCR) has been linked through genetic studies to a number of
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