Correction: Habibi I. et al. “Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)” Genes, 2019, 10, 953
نویسندگان
چکیده
منابع مشابه
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
PURPOSE To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence ima...
متن کاملFunctional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
PURPOSE Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular local...
متن کاملVestibular findings in autosomal recessive ataxia.
OBJECTIVE This study aims to examine vestibular disorders in patients with recessive spinocerebellar ataxia. DESIGN A retrospective cross-sectional study was conducted. The patients underwent the following procedures: case history, ENT and vestibular evaluations. STUDY SAMPLE The tests were performed in 19 patients ranging from 6 to 63 years of age (mean age of 36.7). RESULTS Clinically, ...
متن کاملCorrection: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68
The authors wish to make the following correction to this paper [1]. [...].
متن کامل(I-Cell Disease)-An Autosomal Recessive Disorder
Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis 11 (1-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was...
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ژورنال
عنوان ژورنال: Genes
سال: 2020
ISSN: 2073-4425
DOI: 10.3390/genes11050503