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[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
[HTML][HTML] An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …
[HTML][HTML] ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and …
Purpose ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large
proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing …
proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing …
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically
heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we …
heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we …
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
Over 1200 variants in the ABCA4 gene cause a wide variety of retinal disease phenotypes,
the best known of which is autosomal recessive Stargardt disease (STGD1). Disease …
the best known of which is autosomal recessive Stargardt disease (STGD1). Disease …
Lessons learned from quantitative fundus autofluorescence
Quantitative fundus autofluorescence (qAF) is an approach that is built on a confocal
scanning laser platform and used to measure the intensity of the inherent autofluorescence …
scanning laser platform and used to measure the intensity of the inherent autofluorescence …
The common ABCA4 variant p. Asn1868Ile shows nonpenetrance and variable expression of Stargardt disease when present in trans with severe variants
Purpose: To assess the occurrence and the disease expression of the common p.
Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic …
Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic …
Stargardt disease and progress in therapeutic strategies
Background Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes
Background More than 1500 variants in the ATP-binding cassette, sub-family A, member 4
(ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from …
(ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from …
Stargardt disease: Multimodal imaging: A review
Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by
bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like …
bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like …