Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<i>OCRL</i>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

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作者： Ahmed K,Shalaby ^[1] ; Peter,Emery-Billcliff ^[2] ; Diana,Baralle ^[3] ; Tabib,Dabir ^[4] ; Shahiba,Begum ^[5] ; Sarah,Waller ^[6] ; Lydia,Tabernero ^[2] ; Martin,Lowe ^[2] ; James,Self ^[7]

作者单位： Ophthalmology Department, Princess of Wales Hospital, Manchester, UK. ^[1] School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK. ^[2] Human Development and Health, University of Southampton, UK. ^[3] Northern Regional Genetics Service Belfast City Hospital, Molecular Diagnostics and Microbiology, Belfast UK. ^[4] Royal Stoke Hospital, Stoke-on-Trent, UK. ^[5] Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK. ^[6] Clinical and Experimental Sciences, University of Southampton, UK. ^[7]

主题词氨基酸取代(Amino Acid Substitution);结合部位(Binding Sites);白内障(Cataract);儿童(Child);基因表达(Gene Expression);半合子(Hemizygote);人类(Humans);男(雄)性(Male);眼脑肾综合征(Oculocerebrorenal Syndrome);系谱(Pedigree);表型(Phenotype);磷酸单酯水解酶类(Phosphoric Monoester Hydrolases);点突变(Point Mutation);蛋白质结合(Protein Binding);蛋白质折叠(Protein Folding);蛋白质相互作用域和基序(Protein Interaction Domains and Motifs);rab GTP结合蛋白质类(rab GTP-Binding Proteins)

PMID 30713423

发布时间 2022-02-16

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Molecular vision

2018年24卷

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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<i>OCRL</i>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Molecular vision

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Molecular vision

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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<i>OCRL</i>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Molecular vision

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Molecular vision

相关期刊

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