Articles with "abca4 gene" as a keyword



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Corrigendum to “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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Published in 2018 at "Journal of Ophthalmology"

DOI: 10.1155/2018/3039672

Abstract: [This corrects the article DOI: 10.1155/2018/5706142.]. read more here.

Keywords: greek cohort; spectrum abca4; corrigendum mutation; gene greek ... See more keywords
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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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Published in 2018 at "Journal of Ophthalmology"

DOI: 10.1155/2018/5706142

Abstract: Aim To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). Materials and Methods A total of 59 patients were analyzed for ABCA4 mutations using… read more here.

Keywords: disease; cohort; identification; abca4 gene ... See more keywords
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Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24098275

Abstract: The ABCA4 gene encodes an ATP-binding cassette transporter that is expressed specifically in the disc of photoreceptor outer segments. Mutations in the ABCA4 gene are the main cause of retinal degenerations known as “ABCA4-retinopathies.” Recent… read more here.

Keywords: follicle stem; hair follicle; abca4 gene; gene ... See more keywords